Combined methylmalonic aciduria and homocystinuria cblc type of a Taiwanese infant with c.609G>A and c.567dupT mutations in the MMACHC gene

Pediatrics and Neonatology

Volumn 52, Issue 4, 2011, Pages 223-226

  Chang, Jenn Tzong ^a   Chen, Ying Yao ^a   Liu, Tze Tze ^b   Liu, Mei Ying ^b   Chiu, Pao Chin ^a  

^a KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

cobalamin; homocystinuria; methylmalonic aciduria; MMACHC; vitamin B 12

Indexed keywords

AMMONIA; BETAINE; BICARBONATE; CARNITINE; COBALAMIN; CYANOCOBALAMIN; FOLINIC ACID; HYDROXOCOBALAMIN; LACTIC ACID; MMACHC PROTEIN; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CLINICAL FEATURE; FAILURE TO THRIVE; GENE MUTATION; HOMOCYSTINURIA; HUMAN; INFANT; INTUBATION; LEUKOCYTE COUNT; MALE; METABOLIC ACIDOSIS; METHYLMALONIC ACIDURIA; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE; OUTCOME ASSESSMENT; PANCYTOPENIA; TAIWAN; THROMBOCYTE COUNT;

CARRIER PROTEINS; GENOTYPE; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MUTATION; VITAMIN B 12;

EID: 80051666406     PISSN: 18759572     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pedneo.2011.05.006     Document Type: Article

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