Newborn screening for guanidinoacetate methyl transferase deficiency.
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address: james.pitt@vcgs.org.au.
James J
JJ
Pitt
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.
Nicholas
N
Tzanakos
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.
Thanh
T
Nguyen
D001120:Arginine / Q000172:deficiency* / Q000378:metabolism* / Q000627:therapeutic use*; D003401:Creatine / Q000378:metabolism* / Q000627:therapeutic use*; D004032:Diet; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives*; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency*; D006801:Humans; D008607:Intellectual Disability / Q000628:therapy*; D007805:Language Development Disorders / Q000628:therapy*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000178:diet therapy* / Q000201:enzymology*; D009069:Movement Disorders / Q000151:congenital*; D009952:Ornithine / Q000627:therapeutic use*; D020160:Sodium Benzoate / Q000627:therapeutic use*
D001120:Arginine; D009952:Ornithine; D050937:Guanidinoacetate N-Methyltransferase; D003401:Creatine; D020160:Sodium Benzoate; D005998:Glycine
Guanidinoacetate methyltransferase deficiency; Newborn screening