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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 06/2017, Volume 34, Issue 3, p. 347
Journal Article
Zhonghua nei ke za zhi, ISSN 0578-1426, 03/2013, Volume 52, Issue 3, p. 197
To investigate the manifestations of cardiac involvement in the patients with mucopolysaccharidosis I (MPS I). The clinical data of 10 MPS I patients were... 
Young Adult | Heart Diseases - etiology | Humans | Adolescent | Child, Preschool | Female | Male | Child | Mucopolysaccharidosis I - complications
Journal Article
Zhonghua er ke za zhi = Chinese journal of pediatrics, ISSN 0578-1310, 04/2011, Volume 49, Issue 4, p. 306
Mucopolysaccharidosis type I (MPS I; MIM# 252800) is an autosomal recessive disease that results from the deficiency in the lysosomal enzyme... 
Humans | Prenatal Diagnosis | Child, Preschool | Genotype | Male | Pregnancy | Homozygote | Mucopolysaccharidosis I - diagnosis | Phenotype | DNA Mutational Analysis | Female | Heterozygote | Mucopolysaccharidosis I - genetics | Mutation | Iduronidase - genetics
Journal Article
Archives de pédiatrie, ISSN 0929-693X, 2008, Volume 15, Issue 1, pp. 45 - 49
La mucopolysaccharidose de type I (MPS I) est une maladie de surcharge lysosomiale due à un déficit en α-L-iduronidase, dont le pronostic a été amélioré par... 
Enzymothérapie substitutive | Maladies de surcharge | Mucopolysaccharidose | Laronidase | Maladie de Hurler
Journal Article
Archives de pédiatrie, ISSN 0929-693X, 2007, Volume 14, Issue 10, pp. 1183 - 1189
La mucopolysaccharidose de type I (MPS I) est une maladie de surcharge lysosomale, due au déficit en α-L-iduronidase (IDUA). C'est une maladie grave avec un... 
Maladie de Hurler | Mucopolysaccharidose
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 04/2007, Volume 24, Issue 2, p. 136
To investigate the molecular genetic mechanism of a Chinese patient with mucopolysaccharidosis type I (MPS I). PCR-sequencing analysis was applied to detect... 
Humans | Exons - genetics | Male | Codon, Nonsense | Mutation, Missense | Polymorphism, Genetic | Polymorphism, Restriction Fragment Length | DNA Mutational Analysis | Pedigree | Base Sequence | Adolescent | Polymerase Chain Reaction | Female | Mucopolysaccharidosis I - genetics | Mutation | Iduronidase - genetics
Journal Article
Revista medica del Instituto Mexicano del Seguro Social, ISSN 0443-5117, 09/2012, Volume 50, Issue 5, p. 469
Journal Article
FEUILLETS DE RADIOLOGIE, ISSN 0181-9801, 06/2009, Volume 49, Issue 3, pp. 238 - 242
Journal Article
Archives de pédiatrie, ISSN 0929-693X, 2000, Volume 7, Issue 6, pp. 597 - 604
Les mucopolysaccharidoses (MPS) sont des maladies génétiques dues à des déficits d'enzymes lysosomiales se traduisant par l'accumulation dans les lysosomes de... 
glycosaminoglycans | glycosaminoglycanes | mucopolysaccharidose I | mucopolysaccharidose de type I | iduronidase | Hurler's syndrome | Hurler-Scheie syndrome
Journal Article
Zeitschrift für Rheumatologie, ISSN 0340-1855, 2/2006, Volume 65, Issue 1, pp. 32 - 44
Die lysosomalen Speichererkrankungen Morbus Gaucher, Morbus Fabry und MPS I zählen zu den seltenen erblichen Stoffwechselerkrankungen, die durch eine... 
Mucopolysaccharidosis type I | M. Fabry | Gaucher disease | M. Gaucher | Fabry disease | Lysosomal storage diseases | Lysosomale Speichererkrankungen | Mukopolysaccharidose Typ I
Journal Article
Monatsschrift Kinderheilkunde, ISSN 0026-9298, 4/2006, Volume 154, Issue 4, pp. 347 - 359
Für die lysosomalen Speichererkrankungen Morbus Gaucher (MG), Mukopolysaccharidose I-Scheie (MPS I-S) und Morbus Fabry (MF) stehen Enzymersatztherapien mit dem... 
Rheumatische Erkrankungen | Gaucher disease | Morbus Fabry | Mukopolysaccharidose I-Scheie | Mucopolysaccharidosis type I (Scheie disease) | Rheumatic diseases | Fabry disease | Differential diagnosis | Morbus Gaucher | Differenzialdiagnose
Journal Article
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