Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria

Molecular Genetics and Metabolism

Volumn 105, Issue 1, 2012, Pages 79-83

  Xue, Jinjie ^a   Peng, Jing ^b   Zhou, Mingxing ^a   Zhong, Le ^b   Yin, Fei ^b   Liang, Desheng ^a   Wu, Lingqian ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Brain abnormality; Inborn errors of metabolism; Malonyl coenzyme A decarboxylase deficiency; MLYCD; Novel mutation

Indexed keywords

CARNITINE DERIVATIVE; MALONIC ACID; MALONYL COENZYME A DECARBOXYLASE; MALONYLCARNITINE; METHYLMALONIC ACID; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; METHYLMALONIC ACIDURIA; MICROGYRIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; URINARY EXCRETION;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CARBOXY-LYASES; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLIC NETWORKS AND PATHWAYS; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 84855346438     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.09.007     Document Type: Article

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