Xcode Life

Condition: Glycogen storage disease type II

rs1055945806 in GAA gene and Glycogen storage disease type II

PMID 19588081 2009 Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

PMID 18429042 2008 Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

PMID 18458862 2008 Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

PMID 18285536 2008 Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.

PMID 17027861 2006 Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.

PMID 22676651 2012 A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

PMID 22644586 2012 Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

PMID 19775921 2010 Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

PMID 15121988 2004 Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

PMID 18607768 2008 Molecular diagnosis of German patients with late-onset glycogen storage disease type II.

PMID 20817528 2010 Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.

PMID 17616415 2007 Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.

PMID 28394184 2017 Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.

PMID 14695532 2004 Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

PMID 10528311 1999 [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)].

PMID 19862843 2009 The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.

PMID 23884227 2013 We identified six mutant alleles among the three GSD II patients: c.875A>G, c.1156C>T, c.1316T>A, c.1857C>G, and c2407_2412del7. c.1156C>T (Q386*) is a novel mutation.

PMID 25998610 2015 Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

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 25741864 2015 CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

PMID 24976573 2014 A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).

PMID 17056254 2007 Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.

PMID 27183828 2016 Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

PMID 21926084 2011 Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.

PMID 25681614 2015 Novel GAA mutations in patients with Pompe disease.

PMID 24269976 2014 Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.

PMID 22252923 2012 Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

PMID 18425781 2008 Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

PMID 18757064 2008 Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.

PMID 25783438 2016 LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

PMID 29122469 2017 Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

PMID 8834250 1996 Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.

PMID 7695647 1995 Identification of a de novo point mutation resulting in infantile form of Pompe's disease.

PMID 16433701 2006 Two clinical forms of glycogen-storage disease type II in two generations of the same family.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 8401535 1993 Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.

PMID 1684505 1991 Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.

PMID 9521422 1998 Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.

PMID 14643388 2003 New GAA mutations in Japanese patients with GSDII (Pompe disease).

PMID 15668445 2005 Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

PMID 16782080 2006 A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.

PMID 29181627 2018 Pompe disease in Austria: clinical, genetic and epidemiological aspects.

PMID 14972326 2004 Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

PMID 11071489 2000 Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

PMID 1652892 1991 Sequencing of the cDNA from a cell line (GM 244) derived from a patient with Pompe disease demonstrated a T953-to-C transition that predicted a methionine-to-threonine substitution at codon 318.

PMID 12923862 2003 Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.

PMID 17643989 2007 Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

PMID 20080426 2010 Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

PMID 10737124 1998 Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.

PMID 11738358 2002 Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

PMID 22704482 2012 Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?

PMID 15501829 2005 Mechanistic and structural analysis of a family 31 alpha-glycosidase and its glycosyl-enzyme intermediate.

PMID 17723315 2007 Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

PMID 1898413 1991 Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.

PMID 21605996 2011 Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

PMID 23350563 2013 Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.

PMID 22980766 2012 Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.

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 27711114 2016 Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

PMID 28648663 2017 Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.

PMID 18505979 2008 Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

PMID 21550241 2011 Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.

PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

PMID 16702877 2006 Pompe disease diagnosis and management guideline.

PMID 20472203 2010 Acute progression of neuromuscular findings in infantile Pompe disease.

PMID 9529346 1998 The African origin of the common mutation in African American patients with glycogen-storage disease type II.

PMID 8094613 1993 The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

PMID 21889385 2011 Atypical immunologic response in a patient with CRIM-negative Pompe disease.

PMID 27344650 2017 Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

PMID 17573812 2007 Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.

PMID 21940687 2012 Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy.

PMID 26572913 2016 Multiple, Successful Pregnancies in Pompe Disease.

PMID 15048888 2004 Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.

PMID 25155446 2015 Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.

PMID 23601496 2013 B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.

PMID 20826098 2010 High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.

PMID 25243733 2015 Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

PMID 24715333 2015 Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

PMID 24158270 2014 Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.

PMID 25103075 2014 Genotype-phenotype correlation in Pompe disease, a step forward.

PMID 19609281 2009 Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.

PMID 1895140 1991 Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male.

PMID 20202878 2010 Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.

PMID 21484825 2011 Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

PMID 21179066 2011 Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

PMID 21982629 2011 Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.

PMID 25037089 2014 Pompe disease: literature review and case series.

PMID 22027144 2011 Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation.

PMID 22196155 2012 Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.

PMID 21984055 2012 Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.

PMID 25455803 2015 Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants.

PMID 24495340 2014 Glycogenosome accumulation in the arrector pili muscle in Pompe disease.

PMID 22538254 2012 The emerging phenotype of long-term survivors with infantile Pompe disease.

PMID 5614309 1967 [A new treatment principle in the therapy of postoperative paralytic ileus].

PMID 25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

PMID 21637107 2011 The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.

PMID 26199952 2015 Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient.

PMID 18211760 2007 [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].

PMID 17092519 2006 Two new missense mutations of GAA in late onset glycogen storage disease type II.

PMID 22958975 2012 Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients.

PMID 23787031 2013 Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

PMID 22658377 2012 Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.

PMID 25139343 2015 Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

PMID 22194990 2011 Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

PMID 2252923 1990 Long term survival after intensive care.

PMID 23884227 2013 Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.

PMID 25614309 2015 Morphology and function of cerebral arteries in adults with pompe disease.

PMID 21757382 2011 Rapid progressive course of later-onset Pompe disease in Chinese patients.

PMID 18458862 2008 The genotype/phenotype correlations indicated that c.2238G > C (p.W746C) is correlated with juvenile- onset GSDII and that c.872T > C (p.L291P) and c.1411_1414del (p.E471fsX5) are correlated with infantile-onset GSDII.

PMID 27099502 2016 Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report.

PMID 25093132 2014 Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.

PMID 23430493 2013 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

PMID 7981676 1994 A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

PMID 21232767 2011 Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

PMID 22613277 2012 The impact of antibodies in late-onset Pompe disease: a case series and literature review.

PMID 16860134 2006 Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

PMID 9535769 1998 Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

PMID 24107549 2013 Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

PMID 24337590 2014 Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up study.

PMID 25466677 2015 Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.

PMID 28450385 2017 Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.

PMID 28196920 2017 Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

PMID 31076647 2019 Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

PMID 29124014 2018 A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.

PMID 24513544 2014 Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

PMID 10377006 1999 Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.

PMID 8094613 1993 The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

PMID 9554747 1998 Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.

PMID 21039225 2010 p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.

PMID 15145338 2004 A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.

PMID 10338092 1999 Molecular genetic study of Pompe disease in Chinese patients in Taiwan.

PMID 12897283 2003 The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

PMID 25687635 2015 Premature pubarche in children with Pompe disease.

PMID 20830524 2010 Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.

PMID 24590251 2014 Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 30510819 2018 Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide.

PMID 23266370 2013 Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

PMID 18995995 2008 [Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up].

PMID 24844452 2014 Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.

PMID 14643388 2003 In this study, we present four mutations found in three Japanese patients with the juvenile form of glycogen storage disease type II; three of these mutations were new (R224W, S619R, and R660H).

PMID 20638881 2011 Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.

PMID 22521436 2012 Quantitative computed tomography for enzyme replacement therapy in Pompe disease.

PMID 23430949 2012 Newborn screening for lysosomal storage disorders in hungary.

PMID 16838077 2006 Seven cases of Pompe disease from Greece.

PMID 21920843 2011 [Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease].

PMID 27649523 2017 Late-onset pompe disease in Iran: A clinical and genetic report.

PMID 27142047 2017 Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

PMID 16917947 2006 Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

PMID 23000108 2012 Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.

PMID 27189384 2016 Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

PMID 8990003 1997 Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.

PMID 8558570 1995 Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

PMID 7881422 1994 The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

PMID 9950376 1999 "Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally ""common"" in white populations."

PMID 2510307 1989 [The physiology of bed rest].

PMID 26231297 2015 Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

PMID 27170567 2016 Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

PMID 21439876 2011 Pompe disease: design, methodology, and early findings from the Pompe Registry.

PMID 24150945 2014 Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.

PMID 17210890 2007 Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

PMID 24245577 2013 Phenotypical variation within 22 families with Pompe disease.

PMID 7881425 1994 Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.

PMID 21109266 2011 Late form of Pompe disease with glycogen storage in peripheral nerves axons.

PMID 7717400 1995 Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

PMID 22081099 2012 Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

PMID 26310554 2015 [Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].

PMID 24444888 2014 Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.

PMID 23146291 2012 Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy.

PMID 26575883 2015 [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].

PMID 16478160 2006 Expanding the thioglycoligase strategy to the synthesis of alpha-linked thioglycosides allows structural investigation of the parent enzyme/substrate complex.

PMID 23402890 2013 Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

PMID 21216089 2011 Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy.

PMID 23430847 2012 Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report.

PMID 26031770 2015 Successful combined liver/kidney transplantation from a donor with Pompe disease.

PMID 9660056 1998 Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.

PMID 15366815 2004 Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings.

PMID 26497565 2016 Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.

PMID 21687968 2012 Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.

PMID 23884227 2013 A comprehensive review of the literature revealed that a total of 29 mutant alleles, including 15 different mutations (10 missense, 3 deletion, and 2 nonsense mutations), were previously identified in 15 Korean GSD II patients. c.1316T>A (p.M439K) and c.1857C>G (p.S619R) were the most common mutations and accounted for 36.6% of the total mutant alleles.

PMID 21471980 2011 Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.

PMID 25213570 2014 Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.

PMID 19790257 2009 Structural aspects of therapeutic enzymes to treat metabolic disorders.

PMID 29451150 2018 Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

PMID 28490439 2017 Skeletal muscle metabolism during prolonged exercise in Pompe disease.

PMID 24169249 2013 [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].

PMID 10206684 1998 The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.

PMID 25488666 2015 Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.

PMID 25052852 2014 A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

PMID 12601120 2003 Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.

PMID 30023291 2018 The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

PMID 21803581 2011 Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.

PMID 20308911 2010 The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease.

PMID 15986226 2005 Delayed or late-onset type II glycogenosis with globular inclusions.

PMID 24383498 2014 The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

PMID 25026126 2014 Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.

PMID 23632174 2013 Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.

PMID 14643388 2003 In this study, we present four mutations found in three Japanese patients with the juvenile form of glycogen storage disease type II; three of these mutations were new (R224W, S619R, and R660H).

PMID 25626711 2015 Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

PMID 23013746 2012 Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.

PMID 9259196 1997 Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.

PMID 21644219 2011 [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II].

PMID 16531044 2006 DNA analysis demonstrated novel mutation E888X of acid alpha-glucosidase gene with compound heterozygosity IVS1/E888X, confirming diagnosis of Pompe disease.

PMID 28032299 2017 New mutations and genotype-phenotype correlation in late-onset Pompe patients.

PMID 24016645 2014 [Juvenile Pompe disease: retrospective clinical study].

PMID 7603530 1995 Glycogenosis type II (acid maltase deficiency).

PMID 23825616 2013 Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

PMID 3049072 1988 Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

PMID 1856189 1991 Human lysosomal alpha-glucosidase. Characterization of the catalytic site.

PMID 19948615 2009 Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

PMID 8604985 1996 Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.

PMID 19343043 2009 Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.

PMID 18495398 2009 Sleep disordered breathing in childhood-onset acid maltase deficiency.

PMID 25388776 2015 Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.

PMID 21704464 2012 High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease.

PMID 24190153 2013 A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.

PMID 17805474 2007 "Structural and biochemical studies on Pompe disease and a ""pseudodeficiency of acid alpha-glucosidase""."

PMID 25673129 2015 Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

PMID 10189220 1999 Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.

PMID 16580018 2006 Structure of the Sulfolobus solfataricus alpha-glucosidase: implications for domain conservation and substrate recognition in GH31.

PMID 28657663 2017 Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.

PMID 7981676 1994 A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

PMID 25712382 2015 Autophagy in Natural History and After ERT in Glycogenosis Type II.

PMID 28592009 2017 [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].

PMID 11053688 2000 Frequent mutations in Japanese patients with acid maltase deficiency.

PMID 17213836 2007 Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

PMID 25409744 2015 Enzyme enhancers for the treatment of Fabry and Pompe disease.

PMID 25036864 2014 The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.

PMID 23843830 2012 Bone density in patients with late onset Pompe disease.

PMID 24923245 2014 Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.

PMID 23884227 2013 We identified six mutant alleles among the three GSD II patients: c.875A>G, c.1156C>T, c.1316T>A, c.1857C>G, and c2407_2412del7. c.1156C>T (Q386*) is a novel mutation.

PMID 11854868 2002 Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.

PMID 8435067 1993 Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.

PMID 17041744 2006 Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case report.

PMID 26160551 2015 We report a previously undescribed association of c.1437G>A intron 9 substitution on the GAA gene with severe infantile-onset Pompe disease in a deceased proband and carrier status in four of five surviving family members.

PMID 14643388 2003 In this study, we present four mutations found in three Japanese patients with the juvenile form of glycogen storage disease type II; three of these mutations were new (R224W, S619R, and R660H).

PMID 21676566 2012 Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease.

PMID 23884227 2013 A comprehensive review of the literature revealed that a total of 29 mutant alleles, including 15 different mutations (10 missense, 3 deletion, and 2 nonsense mutations), were previously identified in 15 Korean GSD II patients. c.1316T>A (p.M439K) and c.1857C>G (p.S619R) were the most common mutations and accounted for 36.6% of the total mutant alleles.