The clinical syndrome of creatine transporter deficiency

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

Metabolic abnormalities in developmental dyslexia detected by 1H magnetic resonance spectroscopy

Caroline Rae, Martin A Lee, Ruth Dixon et al. · The Lancet · 1998 · 200 citations

Medicine, Neurology, Neuroscience +14

Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

Kim M. Cecil, G. S. Salomons, William S. Ball et al. · Annals of Neurology · 2001 · 183 citations

Medicine, Neurology, Neuroscience +14

Neurological and MRI profiles of children with developmental language impairment

Doris A. Trauner, Beverly Wulfeck, Paula Tallal et al. · Developmental Medicine & Child Neurology · 2000 · 33 citations · Full text

Medicine, Neurology, Pediatrics +17

3‐Methylglutaconyl‐CoA hydratase deficiency: A new patient with speech retardation as the leading sign

Regina Ensenauer, Christine Müller, Karl Otfried Schwab et al. · Journal of Inherited Metabolic Disease · 2000 · 22 citations · Full text

Life Sciences, Speech-language Pathology, Human Genetics +6