Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: A case study

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

Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study

Olivier Braissant, Hugues Henry, Marc Loup et al. · Molecular Brain Research · 2001 · 233 citations · Full text

Life Sciences, Neurobiology, Neuroscience +8

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

Dietary creatine supplementation does not affect some haematological indices, or indices of muscle damage and hepatic and renal function

Tristan M. Robinson, Dean A. Sewell, A. E. Casey et al. · British Journal of Sports Medicine · 2000 · 114 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +14

Congenital Creatine Transporter Deficiency

Ton J. deGrauw, G. S. Salomons, Kim M. Cecil et al. · Neuropediatrics · 2002 · 108 citations

Life Sciences, Genetics, Molecular Genetics +9