Condition: Pfaundler-Hurler Syndrome


rs1033313360 in IDUA gene and Pfaundler-Hurler Syndrome PMID 12559846 2003 Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

PMID 27392569 2016 Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation.

PMID 19751987 2010 The Idua-W392X mutation is analogous to the human IDUA-W402X mutation commonly found in MPS I-H patients.

PMID 24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 1301196 1992 A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

PMID 8401515 1993 Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

PMID 24036510 2013 Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

PMID 21394825 2011 IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

PMID 7550232 1995 Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

PMID 8019563 1994 Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.

PMID 19396826 2009 Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

PMID 22074387 2011 Most of the Tunisian MPS I patients have been identified at the homozygous status: p.P533R mutation (7 homozygous and one double heterozygous p.L578Q/p.P533R patients; 41.66% of all the investigated MPSI patients), p.F177S (1 homozygous patient; 5.55%), p.L530fs (1 patient; 5.55%), p.Y581X (2 patients; 11.11%), p.F602X (3 patients; 16.66%), p.R628X (1 patient; 5.55%).

PMID 10735634 2000 Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.

PMID 10738517 1999 Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.

PMID 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

PMID 7550242 1995 Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

PMID 15300847 2004 Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

PMID 10466419 1999 Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.

PMID 8328452 1993 Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.

PMID 7951228 1994 Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

PMID 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

PMID 27146977 2016 Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

PMID 7550232 1995 The L490P mutation was apparently homozygous, whereas each of the others was found in compound heterozygosity with a Hurler mutation.

PMID 17570076 2007 We describe a cohort of 14 Hurler-Scheie patients homozygous for the p.Leu490Pro missense mutation in the alpha-L-iduronidase gene.

PMID 23084433 2012 Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.

PMID 11735025 2001 Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

PMID 9391892 1997 Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.

PMID 16435211 2005 Mucopolysaccharidosis I under enzyme replacement therapy with laronidase--a mortality case with autopsy report.

PMID 29801497 2018 Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.

PMID 21480867 2012 Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.

PMID 27520059 2016 Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

PMID 28752568 2017 IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

PMID 12509712 2003 Eleven different mutations including two common mutations (Q70X, W402X), five recurrent mutations (D315Y, P533R, R621X, R628X, S633L), and four novel mutations (R162I, G208D, 1352delG, 1952del25bp) were identified from MPS I patients.

PMID 15300847 2004 Six novel mutations, c.1087C>T (p.R363C), c.1804T>A (p.F602I), c.793G>C, c.712T>A (p.L238Q), c.1727+2T>A, and c.1269C>G (p.S423R), in a total of 14 different mutations, and 13 different polymorphic changes, including the novel c.246C>G (p.H82Q), were identified in a cohort of 10 MPS I patients enrolled in a clinical trial of enzyme-replacement therapy.

PMID 24368159 2014 The missense mutation L238Q, when paired with a nonsense mutation, is associated with significant, late-onset brain disease: psychiatric disorder, cognitive deficit, and general decline starting at a later age than in Hurler syndrome with a mutation-related rate of GAG accumulation and its pathologic sequelae.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12203999 2002 Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

PMID 9748610 1998 Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

PMID 27511503 2016 Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.

PMID 8213840 1993 Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

PMID 24798265 2015 Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

PMID 24875751 2014 Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

PMID 23837464 2013 An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

PMID 8680403 1995 Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

PMID 25614311 2015 Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation.

PMID 16435195 2005 The patient in family 2 who also had the Hurler phenotype was heteroallelic for the novel missense mutation I270S and the previously reported nonsense mutation R628X.

PMID 22074387 2011 Most of the Tunisian MPS I patients have been identified at the homozygous status: p.P533R mutation (7 homozygous and one double heterozygous p.L578Q/p.P533R patients; 41.66% of all the investigated MPSI patients), p.F177S (1 homozygous patient; 5.55%), p.L530fs (1 patient; 5.55%), p.Y581X (2 patients; 11.11%), p.F602X (3 patients; 16.66%), p.R628X (1 patient; 5.55%).

PMID 12509712 2003 Eleven different mutations including two common mutations (Q70X, W402X), five recurrent mutations (D315Y, P533R, R621X, R628X, S633L), and four novel mutations (R162I, G208D, 1352delG, 1952del25bp) were identified from MPS I patients.

PMID 8318992 1993 Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.

PMID 1550122 1992 Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.

PMID 11903343 2001 The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.

PMID 10607946 2000 Unique frequency of known mutations in Brazilian MPS I patients.

PMID 10215409 1998 Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.

PMID 15081804 2004 alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

PMID 8019572 1994 A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

PMID 7550232 1995 The novel mutations, all single base changes, encoded the substitutions R492P (Scheie), and X654G, P496L, and L490P (Hurler/Scheie).

PMID 16188808 2005 Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.

PMID 18463126 2009 Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic.

PMID 27196898 2016 Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.

PMID 22074387 2011 Most of the Tunisian MPS I patients have been identified at the homozygous status: p.P533R mutation (7 homozygous and one double heterozygous p.L578Q/p.P533R patients; 41.66% of all the investigated MPSI patients), p.F177S (1 homozygous patient; 5.55%), p.L530fs (1 patient; 5.55%), p.Y581X (2 patients; 11.11%), p.F602X (3 patients; 16.66%), p.R628X (1 patient; 5.55%).

PMID 9787109 1998 Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.

PMID 25098213 2015 [Genetic mutations and the relationship with clinical phenotype in patients with mucopolysaccharidosis type I in northeast Mexico].

PMID 8664897 1996 Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

PMID 21253827 2011 Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H).

PMID 14516901 2003 Usefulness of bone marrow transplantation in the Hurler syndrome.

PMID 17606547 2007 Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

PMID 21963080 2011 Carotid intima-media thickness is increased in patients with mucopolysaccharidoses.

PMID 16438163 2005 The molecular basis of mucopolysaccharidosis type I in two Thai patients.

PMID 24480078 2014 Structural and clinical implications of amino acid substitutions in α-L-iduronidase: insight into the basis of mucopolysaccharidosis type I.

PMID 26825088 2016 Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

rs121965022 in IDUA;SLC26A1 gene and Pfaundler-Hurler Syndrome PMID 27511503 2016 Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.

PMID 8328452 1993 Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.

PMID 23430803 2013 Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

PMID 21394825 2011 IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

rs121965020 in SLC26A1;IDUA gene and Pfaundler-Hurler Syndrome PMID 21394825 2011 IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

PMID 10215409 1998 Patient with Q70X/Q70X genotype had a severe Hurler phenotype.

PMID 19396826 2009 Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

PMID 1301941 1992 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

PMID 11735025 2001 In this study, 85 MPS I families (73 Hurler, 5 Hurler/Scheie, 7 Scheie) were screened for 9 known mutations (Q70X, A75T, 474-2a>g, L218P, A327P, W402X, P533R, R89Q, 678-7g>a).

PMID 23786846 2013 Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

PMID 7550232 1995 Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

PMID 27146977 2016 Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

PMID 8019563 1994 Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.

PMID 16438163 2005 The molecular basis of mucopolysaccharidosis type I in two Thai patients.

PMID 12203999 2002 Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

PMID 25557439 2015 Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.

PMID 25256405 2015 p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.