Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Florence, Italy. In Mass Spectrom Rev, Jan 2016
Today the use of MS/MS for second-tier tests and confirmatory testing is promising especially in the early detection of new disorders such as some lysosomal storage disorders, ADA and PNP SCIDs, X-adrenoleucodistrophy (X-ALD), Wilson disease, guanidinoacetate methyltransferase deficiency (GAMT), and Duchenne muscular dystrophy.
Creatine and the Liver: Metabolism and Possible Interactions.
Rio Grande, Brazil. In Mini Rev Med Chem, 2014
The process of creatine synthesis occurs in two steps, catalyzed by L-arginine:glycine amidinotransferase (AGAT) and guanidinoacetate N-methyltransferase (GAMT), which take place mainly in kidney and liver, respectively.