Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
Author:
Affiliation:
1. ; Department of Pediatrics (SSI) and Radiotherapy and Radiobiology (CS); University Hospital and General Hospital of Vienna; Austria
2. ; Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1024453704800/fullpdf
Reference32 articles.
1. Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree;Battini;Mol Genet Metab,2002
2. Reversible brain creatine deficiency in two sisters with normal blood creatine level;Bianchi;Ann Neurol,2000
3. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8;Bizzi;Ann Neurol,2002
4. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass-spectrometry;Bodamer;Clin Chim Acta,2001
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