Výsledky vyhledávání - "Froissart Roseline"

Akademický článek

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

Autor: Chahed Henda, Froissart Roseline, Tcheng Rémy, Turkia Hadhami, Khedhiri Souhir, Chkioua Latifa, Ferchichi Salima, Ben Dridi Marie, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi

Publikováno v: Diagnostic Pathology, Vol 6, Iss 1, p 47 (2011)

Abstract Background Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate.

Externí odkaz: https://doaj.org/article/07e4598581ac428d9abf4fd54b6bbb04

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Akademický článek

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II

Autor: Chkioua Latifa, Khedhiri Souhir, Ferchichi Salima, Tcheng Rémy, Chahed Henda, Froissart Roseline, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi

Publikováno v: Diagnostic Pathology, Vol 6, Iss 1, p 42 (2011)

Abstract Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Hunter disease can vary from mild to severe, depending

Externí odkaz: https://doaj.org/article/26eca73ad25644979dffd9c59ff39a6c

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Akademický článek

Glucose-6-phosphatase deficiency

Autor: Labrune Philippe, Gajdos Vincent, Eberschweiler Pascale, Hubert-Buron Aurélie, Petit François, Vianey-Saban Christine, Boudjemline Alix, Piraud Monique, Froissart Roseline

Publikováno v: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 27 (2011)

Abstract Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomeg

Externí odkaz: https://doaj.org/article/ae904d641239403fa1239c9511301326

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Akademický článek

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

Autor: Froissart Roseline, Ferchichi Salima, Bibi Amina, Kassab Asma, Khedhiri Souhir, Chkioua Latifa, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi

Publikováno v: Diagnostic Pathology, Vol 6, Iss 1, p 39 (2011)

Abstract Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates. The disease has severe

Externí odkaz: https://doaj.org/article/cbf999016b39416eb1b116f84d29f965

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