Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Wang, Fei ^a   Han, Lianshu ^a   Yang, Yanling ^b   Gu, Xuefan ^a   Ye, Jun ^a   Qiu, Wenjuan ^a   Zhang, Huiwen ^a   Zhang, Yafen ^a   Gao, Xiaolan ^a   Wang, Yu ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Ministry of Education Beijing   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CARNITINE; CARRIER PROTEIN; HOMOCYSTEINE; METHYLMALONIC ACID; MMACHC PROTEIN, HUMAN; PROPIONYLCARNITINE; STOP CODON; DRUG DERIVATIVE;

AMINO ACID METABOLISM, INBORN ERRORS; ANALOGS AND DERIVATIVES; BLOOD; CHINA; EXON; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HOMOCYSTINURIA; HOMOZYGOTE; HUMAN; INFANT; MASS FRAGMENTOGRAPHY; METABOLISM; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; STOP CODON; URINE; ARTICLE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM;

AMINO ACID METABOLISM, INBORN ERRORS; BIOLOGICAL MARKERS; CARNITINE; CARRIER PROTEINS; CHILD, PRESCHOOL; CHINA; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOCYSTEINE; HOMOCYSTINURIA; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; METHYLMALONIC ACID; PHENOTYPE;

EID: 84887588504     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9217-0     Document Type: Article

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