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

1 Dec 2012

Abstract excerpt

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 cohort of 6,353 subjects to identify PCD patients and compile their clinical, 1H-MRS, biochemical and molecular data. Six GAMT...

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PMID: 23234264
DOI: 10.1186/1750-1172-7-96

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