Condition: Fabry Disease


rs104894848 in GLA;HNRNPH2;RPL36A-HNRNPH2 gene and Fabry Disease PMID 21934708 2012 Clinical utility gene card for: Fabry disease.

PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.

PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PMID 12786754 2003 This change is more consistent with the clinical presentation of the patient, the classical Fabry disease, than the amino acid substitution (S65T), which does not affect the enzyme function.

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.

PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

rs104894837 in GLA;RPL36A-HNRNPH2 gene and Fabry Disease PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.

PMID 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

PMID 21934708 2012 Clinical utility gene card for: Fabry disease.

PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 21598360 2011 A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

PMID 20615758 2010 Ocular manifestations of Fabry disease within in a single kindred.

PMID 23935525 2013 Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

PMID 10916280 2000 Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

PMID 26652600 2015 Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.

PMID 17206462 2007 The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

PMID 12920095 2003 Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

PMID 15713906 2005 Pediatric Fabry disease.

PMID 16595074 2006 Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

PMID 8395937 1993 Mutation analysis in patients with the typical form of Anderson-Fabry disease.

PMID 8878432 1996 A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.

PMID 7911050 1994 Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.

PMID 11668641 2001 Fabry disease: 20 novel GLA mutations in 35 families.

PMID 7531540 1994 Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

PMID 29982630 2018 Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.

PMID 23219219 2013 Cardiac symptoms of Fabry disease were found in 6 out of 10 p.A143T carriers.

PMID 29867742 2018 The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients.

PMID 27979989 2017 Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

PMID 23430526 2013 In case of the p.Ala143Thr mutation, and possibly also other mutations associated with an attenuated phenotype, diagnostic tools such as biopsy and imaging should critically evaluate the relation of end-organ failure with Fabry disease, as this has important consequences for enzyme replacement therapy.

PMID 9100224 1997 Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

PMID 27142856 2016 Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations.

PMID 18596132 2008 Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.

PMID 11889412 2002 Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

PMID 17532296 2007 Screening for pharmacological chaperones in Fabry disease.

PMID 17804462 2008 Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.

PMID 16773563 2006 High incidence of later-onset fabry disease revealed by newborn screening.

PMID 15091117 2004 Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.

PMID 16533976 2006 Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.

PMID 18154965 2007 Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.

PMID 16215932 2005 Novel GLA gene mutations in two Chinese families with classic Fabry disease.

PMID 27560961 2016 Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 22227322 2012 Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.

PMID 21138548 2010 Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.

PMID 21092187 2010 Fabry disease.

PMID 18698230 2008 Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

PMID 22078290 2012 Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature.

PMID 23306324 2013 Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.

PMID 12175777 2002 Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.

PMID 15776423 2005 Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

PMID 23332617 2013 Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.

PMID 27083555 2016 The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

PMID 25663229 2015 Thromboembolic events in Fabry disease and the impact of factor V Leiden.

PMID 25382311 2015 Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.

PMID 27657681 2017 The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

PMID 24386359 2013 Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

PMID 19387866 2009 The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.

PMID 15712228 2005 Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

PMID 27931613 2016 Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

PMID 28430823 2017 Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.

PMID 28082092 2017 Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.

PMID 11828341 2002 Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.

PMID 23109060 2013 Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

PMID 22437327 2012 Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

PMID 27554049 2017 Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.

PMID 27595546 2016 The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 28377241 2017 Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.

PMID 20031620 2009 High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

PMID 20821055 2010 Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

PMID 19621417 2009 Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

PMID 11914245 2002 Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.

PMID 11531969 2001 Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 17555407 2007 Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

PMID 18849176 2008 The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members.

PMID 29018006 2017 α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.

PMID 15702404 2005 Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.

PMID 23568732 2013 [Genetic and clinical study of three Chinese pedigrees with Fabry disease].

PMID 21972175 2012 Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).

PMID 1315715 1992 Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case.

PMID 24236025 2013 Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

PMID 11322659 2001 Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

PMID 12938095 2003 Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.

PMID 26631895 2015 A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman.

PMID 28389313 2017 Fabry Disease: An Uncommon Cause of Renal Failure.

PMID 22004918 2011 Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

PMID 23566439 2013 Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening.

PMID 11804208 2001 Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.

PMID 7575533 1995 Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.

PMID 28649509 2017 Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.

PMID 10649504 2000 Five novel mutations in fourteen patients with Fabry Disease.

PMID 22773828 2012 α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.

PMID 26691501 2016 Molecular and clinical studies in five index cases with novel mutations in the GLA gene.

PMID 10090526 1999 The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.

PMID 27629047 2016 Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

PMID 29491734 2018 Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.

PMID 28988177 2017 Fabry disease due to D313Y and novel GLA mutations.

PMID 24094560 2013 Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy.

PMID 20022777 2010 Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

PMID 27992580 2016 Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy.

PMID 23591357 2013 [A boy with Fabry disease with the onset at the age of four].

rs1555987215 in GLA;RPL36A-HNRNPH2;HNRNPH2 gene and Fabry Disease PMID 15712228 2005 Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

PMID 10916280 2000 Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

PMID 9100224 1997 Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

PMID 27129690 2016 Significant improvement in Fabry disease podocytopathy after 3 years of treatment with agalsidase beta.

PMID 28672034 2017 Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.

PMID 27657681 2017 The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PMID 8875188 1996 Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.

PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 23935525 2013 Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 18205205 2008 Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

PMID 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

PMID 19287194 2009 Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PMID 21934708 2012 Clinical utility gene card for: Fabry disease.

PMID 17452128 2007 Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study.

rs104894831 in HNRNPH2;GLA;RPL36A-HNRNPH2 gene and Fabry Disease PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PMID 28360401 2017 Mutational analysis of the GLA gene in Mexican families with Fabry disease.

PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

PMID 7531540 1994 Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PMID 25974833 2016 X-chromosome inactivation in female patients with Fabry disease.

PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 21934708 2012 Clinical utility gene card for: Fabry disease.

PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

rs104894836 in HNRNPH2;RPL36A-HNRNPH2;GLA gene and Fabry Disease PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PMID 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PMID 21934708 2012 Clinical utility gene card for: Fabry disease.

PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.

PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

PMID 18698230 2008 Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

PMID 11322659 2001 Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

rs104894827 in RPL36A-HNRNPH2;GLA gene and Fabry Disease PMID 24582695 2014 Fabry disease: a new approach for the screening of females in high-risk groups.

PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 25382311 2015 Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.

PMID 17532296 2007 Screening for pharmacological chaperones in Fabry disease.

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 20031620 2009 High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PMID 17555407 2007 Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.

PMID 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PMID 21934708 2012 Clinical utility gene card for: Fabry disease.

PMID 23935525 2013 Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 22551898 2012 New mutations in the GLA gene in Brazilian families with Fabry disease.

PMID 23537685 2013 What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.

PMID 21598360 2011 A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

PMID 24334114 2014 Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PMID 22773828 2012 α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 23378663 2015 Diagnosing Fabry disease--delays and difficulties within discordant siblings.

PMID 22241068 2012 Pharmacological chaperone therapy for Fabry disease.

PMID 15702404 2005 Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.

PMID 24386359 2013 Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

PMID 27356758 2016 Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

PMID 1315715 1992 Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case.

PMID 9883849 1999 Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.

PMID 9395081 1997 Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.

PMID 20505683 2010 Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

PMID 11688386 2001 A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant.

PMID 8738659 1996 Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.

PMID 27560961 2016 Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

PMID 11322659 2001 Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

PMID 12428061 2002 Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.

PMID 10916280 2000 Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

PMID 1315715 1992 In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.

PMID 1315715 1992 In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.

PMID 8395937 1993 Mutation analysis in patients with the typical form of Anderson-Fabry disease.

PMID 27657681 2017 The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

PMID 22227322 2012 Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.

PMID 1315715 1992 In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.

PMID 12668521 2003 Early detection of Fabry cardiomyopathy by tissue Doppler imaging.

PMID 18698230 2008 Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

PMID 9116979 1997 Pulmonary involvement in Fabry disease.

PMID 26047621 2015 Pathology and function of conduction tissue in Fabry disease cardiomyopathy.

PMID 15712228 2005 Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

PMID 25439755 2015 A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke.

PMID 18205205 2008 Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

PMID 12938095 2003 Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.

PMID 10649504 2000 Five novel mutations in fourteen patients with Fabry Disease.

PMID 11889412 2002 Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

PMID 26937405 2015 Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

PMID 28302345 2017 Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.

PMID 12175777 2002 Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.

PMID 11668641 2001 Fabry disease: 20 novel GLA mutations in 35 families.

PMID 21946453 2011 The α-galactosidase A activity was deficient in plasma and normal in peripheral leukocytes; the GLA gene showed a nucleotide substitution c.352C>T (p.Arg 118 Cys) in the eson 2 with a residual enzyme activity of the 29% suggesting the diagnosis of Fabry disease.

PMID 24661928 2014 Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.

PMID 25468652 2015 Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease.

PMID 2393552 1990 A comparison of brain glucose metabolism in diabetes as measured by positron emission tomography or by arteriovenous techniques.

PMID 16773563 2006 High incidence of later-onset fabry disease revealed by newborn screening.

PMID 20122163 2010 Frequency of Fabry disease in male and female haemodialysis patients in Spain.

PMID 24365053 2014 Prevalence of Fabry's disease within hemodialysis patients in Spain.

PMID 20110537 2010 Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.

PMID 29079200 2018 Female Fabry disease patients and X-chromosome inactivation.

PMID 25974833 2016 X-chromosome inactivation in female patients with Fabry disease.

PMID 15806320 2005 Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.

PMID 20628902 2010 Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).

PMID 22176145 2011 Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy.

PMID 9100224 1997 Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

PMID 16595074 2006 Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

PMID 26333625 2016 Gastrointestinal involvement in Fabry disease. So important, yet often neglected.

PMID 15100373 2004 Results of a nationwide screening for Anderson-Fabry disease among dialysis patients.

PMID 12778775 2003 Anderson-Fabry disease in Austria.

PMID 19387866 2009 The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.

PMID 18424138 2008 Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

PMID 7531540 1994 Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

PMID 25026990 2014 Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.

PMID 25596309 2015 Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

PMID 27979989 2017 Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

PMID 25040344 2015 Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.

PMID 20022777 2010 Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

PMID 15776423 2005 Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

PMID 8875188 1996 Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.

PMID 26252393 2015 Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

PMID 8807334 1996 A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.

PMID 19941952 2010 Functional studies of new GLA gene mutations leading to conformational Fabry disease.

PMID 20367968 2010 [Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].

PMID 28756410 2017 Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.

PMID 18154965 2007 Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.

PMID 15339079 2004 A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.

PMID 9452068 1998 A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.

PMID 26297554 2015 Identification of mutations in Colombian patients affected with Fabry disease.

PMID 15713906 2005 Pediatric Fabry disease.

PMID 19287194 2009 Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

PMID 28682471 2017 Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.

PMID 21896204 2011 Genetic screening of Fabry patients with EcoTILLING and HRM technology.

PMID 24236025 2013 Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

PMID 22004918 2011 Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

PMID 18387337 2008 Neuropathic symptoms and findings in women with Fabry disease.

PMID 26083343 2015 Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.

PMID 28500230 2018 Conjunctival lymphangiectasia associated with classic Fabry disease.

rs104894835 in RPL36A-HNRNPH2;GLA;HNRNPH2 gene and Fabry Disease PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 16595074 2006 Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

PMID 21934708 2012 Clinical utility gene card for: Fabry disease.

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.

PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PMID 21598360 2011 A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PMID 11668641 2001 Fabry disease: 20 novel GLA mutations in 35 families.

PMID 27211852 2017 A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.

PMID 27356758 2016 Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

PMID 12920095 2003 Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

PMID 10916280 2000 Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

rs869312136 in RPL36A-HNRNPH2;HNRNPH2;GLA gene and Fabry Disease PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.