Associated Papers
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
Pasquali M et al.
Journal of Inherited Metabolic Disease, 2014
Disorders of creatine transport and metabolism.
Longo N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Nasrallah F et al.
Pediatric Neurology, 2010
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
Engelke UF et al.
Nmr in Biomedicine, 2009
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
Dhar SU et al.
Molecular Genetics and Metabolism, 2009
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Stockler S et al.
Sub-cellular Biochemistry, 2007
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