Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine: Glycine amidinotransferase deficiency

Molecular Genetics and Metabolism

Volumn 106, Issue 1, 2012, Pages 48-54

  Ndika, Joseph D T ^a   Johnston, Kathreen ^b   Barkovich, James A ^c   Wirt, Michael D ^d   O'Neill, Patricia ^e   Betsalel, Ofir T ^a   Jakobs, Cornelis ^a   Salomons, Gajja S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Genetics Department   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d BLANCHFIELD ARMY COMMUNITY HOSPITAL   (United States)

^e Rehabilitation Services Department   (United States)

Author keywords

AGAT; Creatine deficiency; Creatine supplementation; Developmental delay

Indexed keywords

CREATINE; CREATININE; GUANIDINOACETIC ACID;

ACADEMIC ACHIEVEMENT; ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY; ARTICLE; CASE REPORT; CHILD; CREATININE BLOOD LEVEL; DEVELOPMENTAL DISORDER; DIET SUPPLEMENTATION; DIET THERAPY; DNA SEQUENCE; DNA SYNTHESIS; DRUG DOSE INCREASE; ENZYME ACTIVITY; EXON; FAILURE TO THRIVE; FEMALE; FLUID INTAKE; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HEMISPHERE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; LANGUAGE DEVELOPMENT; LYMPHOBLAST; MUSCLE HYPOTONIA; PREGNANCY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SITTING; SPEECH THERAPY; TREATMENT DURATION; URINALYSIS; WEIGHT GAIN;

AMIDINOTRANSFERASES; BRAIN; CHILD; CREATINE; DEVELOPMENTAL DISABILITIES; DIETARY SUPPLEMENTS; FEMALE; GLYCINE; HUMANS; MUTATION;

EID: 84860170497     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.01.017     Document Type: Article

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