An accurate stable isotope dilution gas chromatographic–mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
- 1 December 1998
- journal article
- Published by Elsevier in Journal of Pharmaceutical and Biomedical Analysis
- Vol. 18 (4-5) , 659-665
- https://doi.org/10.1016/s0731-7085(98)00280-5
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesisMetabolism, 1997
- GC‐MS determination of guanidinoacetate in urine and plasmaJournal of Inherited Metabolic Disease, 1997
- Sakaguchi reaction: a useful method for screening guanidinoacetate‐methyltransferase deficiencyJournal of Inherited Metabolic Disease, 1996
- 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
- Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and futurePrenatal Diagnosis, 1990
- Specificity of creatine kinase. New glycocyamines and glycocyamine analogs related to creatineJournal of the American Chemical Society, 1971