Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Molecular Genetics and Metabolism

Volumn 96, Issue 1, 2009, Pages 38-43

  Dhar, S U ^a   Scaglia, F ^a   Li, F Y ^a   Smith, L ^b   Barshop, B A ^c   Eng, C M ^a   Haas, R H ^c   Hunter, J V ^a   Lotze, T ^a   Maranda, B ^d   Willis, M ^c   Abdenur, J E ^e   Chen, E ^f   O'Brien, W ^a   Wong, L J C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CHILDREN S MERCY HOSPITAL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d LAVAL UNIVERSITY   (Canada)

^e CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^f KAISER PERMANENTE MEDICAL CENTER   (United States)

Author keywords

Developmental delay; GAMT deficiency; Guanidinoacetate; Myoclonic epilepsy; Seizures

Indexed keywords

GUANIDINOACETATE METHYLTRANSFERASE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DYSTONIA; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; MYOCLONUS EPILEPSY; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; ONSET AGE; PORTUGAL; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SITE DIRECTED MUTAGENESIS;

ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; CREATINE; FEMALE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INFANT; MALE; MUTATION; SEIZURES;

EID: 57649097137     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.10.008     Document Type: Article

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