Chike Bellarmine Item

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

Chike Bellarmine Item, Sylvia Stöckler‐Ipsiroglu, Carmen Stromberger et al. · The American Journal of Human Genetics · 2001 · 251 citations · Full text

Biochemistry, Physiology, Glycine Amidinotransferase Deficiency +8

GAMT deficiency

Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami et al. · Neurology · 2006 · 156 citations

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

Roberta Battini, Vincenzo Leuzzi, Carla Carducci et al. · Molecular Genetics and Metabolism · 2002 · 102 citations

Nutrition, Creatine Depletion, Agat Deficiency +7

The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

David C. Kasper, Rene Ratschmann, Thomas F. Metz et al. · Wiener klinische Wochenschrift · 2010 · 68 citations

Future Goals, Newborn Screening, Neonatology +8

Simplified Newborn Screening Protocol for Lysosomal Storage Disorders

Thomas F. Metz, Thomas P. Mechtler, Joseph J. Orsini et al. · Clinical Chemistry · 2011 · 64 citations · Full text