Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

<p>Abstract</p> <p>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 were measured in a coho...

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Main Authors: 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
Format: Article
Language:English
Published: BMC 2012-12-01
Series:Orphanet Journal of Rare Diseases
Online Access:http://www.ojrd.com/content/7/1/96

Internet

http://www.ojrd.com/content/7/1/96

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