Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8

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

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Amy J. Clark, Efraim H. Rosenberg, Lígia S. Almeida et al. · Human Genetics · 2006 · 143 citations

Life Sciences, Genetics, Molecular Genetics +8

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

Yuko Kurosawa, Ton J. deGrauw, Diana M. Lindquist et al. · Journal of Clinical Investigation · 2012 · 101 citations

Life Sciences, Neuroscience, Pharmacology +13

Clinical features and X-inactivation in females heterozygous for creatine transporter defect

JM van de Kamp, GMS Mancini, PJW Pouwels et al. · Clinical Genetics · 2010 · 87 citations · Full text

Life Sciences, Genetics, Excretion +12

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

Ángela Arias, Marc Corbella, Carmen Fons et al. · Clinical Biochemistry · 2007 · 77 citations

Medicine, Psychiatry, Metabolomics +6