X-linked creatine transporter deficiency presenting as a mitochondrial disorder

Journal of Child Neurology

Volumn 25, Issue 8, 2010, Pages 1009-1012

  Hathaway, Samantha C ^a   Friez, Michael ^d   Limbo, Kimberly ^a   Parker, Colette ^a   Salomons, Gajja S ^c   Vockley, Jerry ^b   Wood, Tim ^d   Abdul Rahman, Omar A ^a  

^a UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

creatine transporter; mitochondria; SCL6A8

Indexed keywords

AMPHETAMINE; CARBAMAZEPINE; CISAPRIDE; CLONAZEPAM; CREATINE; CREATININE; METHYLPHENIDATE; PREDNISONE; RANITIDINE; TOPIRAMATE; VALPROATE SEMISODIUM; VALPROIC ACID;

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; ATTENTION DISTURBANCE; AUTISM; BRAIN DISEASE; CASE REPORT; CREATININE BLOOD LEVEL; DIAGNOSTIC ERROR; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTROENCEPHALOGRAPHY; GASTROESOPHAGEAL REFLUX; HUMAN; HYPERACTIVITY; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; NEUROLOGIC EXAMINATION; NOCTURNAL SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN URINE LEVEL; SEIZURE; SPEECH DISORDER; X LINKED CREATINE TRANSPORTER DEFICIENCY;

ADOLESCENT; BIOLOGICAL MARKERS; CREATINE; DIAGNOSIS, DIFFERENTIAL; GENETIC DISEASES, X-LINKED; HUMANS; INCLUSION BODIES; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; NERVE TISSUE PROTEINS; OXIDATIVE STRESS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS;

EID: 77954705982     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809352109     Document Type: Article

References (7)

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