Meth ylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome

American Journal of Medical Genetics

Volumn 77, Issue 3, 1998, Pages 198-200

  Arn, Pamela H ^a   Williams, Charles A ^b   Zori, Roberto T ^b   Driscoll, Daniel J ^b   Rosenblatt, David S ^c  

^a NEMOURS CHILDREN S CLINIC   (United States)

^b PHILIPS RESEARCH LABORATORIES   (Netherlands)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

Angelman syndrome; Methylenetetrahydrofolate reductase; Methylenetetrahydrofolate reductase deficiency

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ARTICLE; CASE REPORT; CHROMOSOME 15; ENZYME ACTIVITY; ENZYME DEFICIENCY; GAIT DISORDER; HAPPY PUPPET SYNDROME; HUMAN; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE;

ANGELMAN SYNDROME; CHILD; DIAGNOSIS, DIFFERENTIAL; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; MALE; METABOLISM, INBORN ERRORS; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PHENOTYPE; VITAMIN B 12;

EID: 0032543273     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19980518)77:3<198::aid-ajmg4>3.0.co;2-m     Document Type: Article

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