Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

Treatment of intractable epilepsy in a female with SLC6A8 deficiency

(2010) Saadet Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency

(2009) C. Fons et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) Olivier Braissant et al.   NEUROBIOLOGY OF DISEASE

Immunohistochemical localisation of the creatine transporter in the rat brain

(2009) C.S.W. Mak et al.   NEUROSCIENCE

Na+/Cl−/creatine transporter activity and expression in rat brain synaptosomes

(2009) M.J. Peral et al.   NEUROSCIENCE

S-Adenosyl-l-methionine restores photoreceptor function following acute retinal ischemia

(2009) LEITH MOXON-LESTER et al.   VISUAL NEUROSCIENCE

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts

(2008) Vincenzo Leuzzi et al.   ANALYTICAL BIOCHEMISTRY

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review

(2008) O. Braissant et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Expression and possible role of creatine transporter in the brain and at the blood-cerebrospinal fluid barrier as a transporting protein of guanidinoacetate, an endogenous convulsant

(2008) Masanori Tachikawa et al.   JOURNAL OF NEUROCHEMISTRY

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency

(2008) Monika Dezortova et al.   MAGNETIC RESONANCE MATERIALS IN PHYSICS BIOLOGY AND MEDICINE

Treatment withl-Arginine improves neuropsychological disorders in a child with Creatine transporter defect

(2008) Anna Chilosi et al.   NEUROCASE

CARDIAC MANIFESTATIONS IN A CHILD WITH A NOVEL MUTATION IN CREATINE TRANSPORTER GENE SLC6A8

(2008) I. A. Anselm et al.   NEUROLOGY