Three novel and six common mutations in 11 patients with methylmalonic acidemia

Pediatrics International

Volumn 48, Issue 1, 2006, Pages 1-4

  Kobayashi, Azusa ^a   Kakinuma, Hiroaki ^a,b   Takahashi, Hiroaki ^a  

^a KANAZAWA MEDICAL UNIVERSITY   (Japan)

^b NONE   (Japan)

Author keywords

Methylmalonic acidemia; Methylmalonyl CoA mutase; mut ; mut0; Mutation; Phenotype

Indexed keywords

CARBON 11; HYDROXOCOBALAMIN; METHYLMALONYL COENZYME A MUTASE; PROPIONIC ACID;

ARTICLE; CAUSE OF DEATH; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; INFANCY; INFANT; JAPAN; LETHARGY; METABOLIC ACIDOSIS; METHYLMALONIC ACIDEMIA; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN PERIOD; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; INFANT, NEWBORN; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MUTATION;

EID: 33645237565     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2006.02174.x     Document Type: Article

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