Zobrazeno 1 - 10
of 264
pro vyhledávání: '"Vianey-Saban Christine"'
Autor:
Cheillan David, Curt Marie Joncquel-Chevalier, Briand Gilbert, Salomons Gajja S, Mention-Mulliez Karine, Dobbelaere Dries, Cuisset Jean-Marie, Lion-François Laurence, Portes Vincent Des, Chabli Allel, Valayannopoulos Vassili, Benoist Jean-François, Pinard Jean-Marc, Simard Gilles, Douay Olivier, Deiva Kumaran, Afenjar Alexandra, Héron Delphine, Rivier François, Chabrol Brigitte, Prieur Fabienne, Cartault François, Pitelet Gaëlle, Goldenberg Alice, Bekri Soumeya, Gerard Marion, Delorme Richard, Tardieu Marc, Porchet Nicole, Vianey-Saban Christine, Vamecq Joseph
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 96 (2012)
Abstract A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) and creatine:creatinine ratios w
Externí odkaz:
https://doaj.org/article/e2ce112ecc654a17af27c0a14d4a6252
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
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
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
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
Autor:
Briand Gilbert, Martin-Ponthieu Annie, Mention-Mulliez Karine, Dobbelaere Dries, Rabier Daniel, Napuri-Gouel Silvia, Brivet Michèle, Gregersen Niels, Andresen Brage S, Fontaine Monique, Dessein Anne-Frédérique, Millington David S, Vianey-Saban Christine, Wanders Ronald JA, Vamecq Joseph
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 5, Iss 1, p 26 (2010)
Abstract A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vomiting, was sub-febrile and hypog
Externí odkaz:
https://doaj.org/article/a508295219714cae8daabf3566a2a96c
Autor:
Guffon Nathalie, Vianey-Saban Christine, Acquaviva Cécile, Fouilhoux Alain, Forest Isabelle, Levrat Virginie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 3, Iss 1, p 2 (2008)
Abstract Background Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate s
Externí odkaz:
https://doaj.org/article/eeb2665591f34b3fa722981d9accc253
Autor:
Gaillard, Ségolène, Roche, Laurent, Deschênes, Georges, Morin, Denis, Vianey-Saban, Christine, Acquaviva-Bourdain, Cécile, Nony, Patrice, Subtil, Fabien, Mercier, Catherine, Cochat, Pierre, Bertholet-Thomas, Aurélia, Cornu, Catherine, Kassai, Behrouz
Publikováno v:
In Therapies April 2020 75(2):169-173
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Akademický článek
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