Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

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

Determination of reference intervals for serum creatinine, creatinine excretion and creatinine clearance with an enzymatic and a modified Jaffé method

Wolfgang Junge, Baerbel Wilke, Atef Halabi et al. · Clinica Chimica Acta · 2004 · 242 citations

Pharmacy, Nephrology, Excretion +9

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Efraim H. Rosenberg, Lígia S. Almeida, Tjitske Kleefstra et al. · The American Journal of Human Genetics · 2004 · 213 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9