Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport
- 11 June 2004
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 82 (3) , 214-219
- https://doi.org/10.1016/j.ymgme.2004.05.001
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Clinical characteristics and diagnostic clues in inborn errors of creatine metabolismJournal of Inherited Metabolic Disease, 2003
- X‐linked creatine transporter defect: An overviewJournal of Inherited Metabolic Disease, 2003
- Lack of creatine in muscle and brain in an adult with GAMT deficiencyAnnals of Neurology, 2003
- Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in HumansAmerican Journal of Human Genetics, 2001
- Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometryClinica Chimica Acta; International Journal of Clinical Chemistry, 2001
- X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency SyndromeAmerican Journal of Human Genetics, 2001
- An accurate stable isotope dilution gas chromatographic–mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiencyJournal of Pharmaceutical and Biomedical Analysis, 1998
- GC‐MS determination of guanidinoacetate in urine and plasmaJournal of Inherited Metabolic Disease, 1997
- Creatine Deficiency in the Brain: A New, Treatable Inborn Error of MetabolismPediatric Research, 1994
- Guanidino compounds in serum, urine, liver, kidney, and brain of man and some ureotelic animalsMetabolism, 1992