Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Creatine Deficiency in the Brain: A New, Treatable Inborn Error of Metabolism

Sylvia Stöckler, U. Holzbach, F. Hanefeld et al. · Pediatric Research · 1994 · 418 citations

Life Sciences, Neurology, Neuroscience +10

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Gajja S. Salomons, Silvy J.M. van Dooren, Nanda M. Verhoeven et al. · The American Journal of Human Genetics · 2001 · 397 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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 · 254 citations · Full text

Life Sciences, Biochemistry, Enzymology +11

Protocols for Neural Cell Culture

Trends in Neurosciences · 1993 · 249 citations

Life Sciences, Cell Biology, Neuroscience +12