Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing

Molecular Genetics and Metabolism

Volumn 107, Issue 4, 2012, Pages 664-668

  Kim, Jaeseung C ^a   Lee, Ni Chung ^b   Hwu, Paul Wuh Liang ^b   Chien, Yin Hsiu ^b   Fahiminiya, Somayyeh ^a   Majewski, Jacek ^a   Watkins, David ^a   Rosenblatt, David S ^a  

^a MCGILL UNIVERSITY   (Canada)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

ABCD4; cblJ; Exome sequencing; Homocysteine; Methylmalonic acid; Vitamin B12

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; ABC TRANSPORTER; ATP BINDING CASSETTE D4; CARBON 14; CYANOCOBALAMIN; METHIONINE SYNTHASE; METHYLMALONYL COENZYME A MUTASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CYTOPLASM; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; HYPERHOMOCYSTEINEMIA; INBORN ERROR OF METABOLISM; LYSOSOME; MALE; METHYLMALONIC ACIDURIA; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; VITAMIN METABOLISM;

ADOLESCENT; AGE OF ONSET; ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; EXOME; FIBROBLASTS; GENOTYPE; HUMANS; MALE; METABOLISM, INBORN ERRORS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; PEDIGREE; VITAMIN B 12;

EID: 84869877658     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.10.005     Document Type: Article

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