Erratum: X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype (Journal of Inherited Metabolic Disese (2006) vol. 29 (1) (214-219) 10.1007/s10545-006-0123-4);X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

Journal of Inherited Metabolic Disease

Volumn 29, Issue 1, 2006, Pages 214-219

  Anselm, I M ^a   Alkuraya, F S ^b   Salomons, G S ^c   Jakobs, C ^c   Fulton, A B ^b   Mazumdar, M ^a   Rivkin, M ^a   Frye, R ^a   Poussaint, T Young ^b   Marsden, Deborah ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ASCORBIC ACID; CARNITINE; CLONAZEPAM; CREATINE; CREATININE; GENOMIC DNA; LORAZEPAM; MEMBRANE PROTEIN; MESSENGER RNA; PHENOBARBITAL; PROTEIN SLC6A8; RIBOFLAVIN; RISPERIDONE; THIAMINE; TRICARBOXYLIC ACID; TRIHEXYPHENIDYL; UBIDECARENONE; UNCLASSIFIED DRUG; VITAMIN K GROUP;

AMINO ACID TRANSPORT; ARTICLE; BRAIN SCINTISCANNING; CASE REPORT; CHILD; CHILD DEVELOPMENT; CHOREOATHETOSIS; CLINICAL FEATURE; CREATININE BLOOD LEVEL; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPTIC STATE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HISTOPATHOLOGY; HUMAN; INBORN ERROR OF METABOLISM; KARYOTYPE; LABORATORY TEST; MALE; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUTRITIONAL STATUS; OPHTHALMOSCOPY; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; STOMACH TUBE; TREATMENT OUTCOME; URINALYSIS; URINARY EXCRETION; VISUAL SYSTEM EXAMINATION; VITAMIN SUPPLEMENTATION; X LINKED CREATINE TRANSPORTER DEFECT;

EID: 33645678077     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-9997-4     Document Type: Erratum

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