Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

Molecular Genetics and Metabolism

Volumn 106, Issue 4, 2012, Pages 424-429

  Vatanavicharn, Nithiwat ^a   Champattanachai, Voraratt ^b   Liammongkolkul, Somporn ^a   Sawangareetrakul, Phannee ^b   Keeratichamroen, Siriporn ^b   Ketudat Cairns, James R ^b,c   Srisomsap, Chantragan ^b   Sathienkijkanchai, Achara ^a   Shotelersuk, Vorasuk ^d,e   Kamolsilp, Mahattana ^f   Wattanasirichaigoon, Duangrurdee ^g   Svasti, Jisnuson ^b,h   Wasant, Pornswan ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b Krung Thep Maha Nakhon   (Thailand)

^c SURANAREE UNIVERSITY OF TECHNOLOGY   (Thailand)

^d CHULALONGKORN UNIVERSITY   (Thailand)

^e KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

^f PHRAMONGKUTKLAO HOSPITAL   (Thailand)

^g MAHIDOL UNIVERSITY   (Thailand)

^h Mahidol University   (Thailand)

Author keywords

Deep intronic polymorphisms; Methylmalonic acidemia; MMAA; MMAB; MUT

Indexed keywords

COBAMAMIDE; METHYLMALONYL COENZYME A MUTASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; METHYLMALONIC ACIDEMIA; MMAA GENE; MMAB GENE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ALKYL AND ARYL TRANSFERASES; ALTERNATIVE SPLICING; AMINO ACID METABOLISM, INBORN ERRORS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; METHYLMALONYL-COA MUTASE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC;

EID: 84864345932     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.012     Document Type: Article

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