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

Journal of Inherited Metabolic Disease

Volumn 35, Issue 1, 2012, Pages 141-149

  Van De Kamp, Jiddeke M ^a   Pouwels, Petra J W ^a   Aarsen, Femke K ^b   Ten Hoopen, Leontine W ^b   Knol, Dirk L ^a   De Klerk, Johannes B ^b   De Coo, Ireneus F ^b   Huijmans, Jan G M ^b   Jakobs, Cornelis ^a   Van Der Knaap, Marjo S ^a   Salomons, Gajja S ^a   Mancini, Grazia M S ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CREATINE; GLYCINE;

ARTICLE; BRAIN LEVEL; CHILD; CLINICAL ARTICLE; COMBINATION CHEMOTHERAPY; CONTROLLED STUDY; CREATINE TRANSPORTER DEFECT; CREATININE URINE LEVEL; DRUG EFFICACY; DRUG SAFETY; FEMALE; FOLLOW UP; HUMAN; HYPERACTIVITY; INFANT; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KIDNEY CALCIFICATION; LOCOMOTION; LONG TERM CARE; NEPHROLITHIASIS; OUTCOME ASSESSMENT; PATIENT COMPLIANCE; PRESCHOOL CHILD; SCHOOL CHILD; SIDE EFFECT; TREATMENT DURATION; X CHROMOSOME LINKED DISORDER;

AMINO ACID TRANSPORT DISORDERS, INBORN; ARGININE; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CREATINE; GENES, X-LINKED; GLYCINE; HUMANS; INFANT; INTELLIGENCE TESTS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MEMBRANE TRANSPORT PROTEINS; NEURONS;

EID: 84863311608     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9345-1     Document Type: Article

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