|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
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|
pubmed:dateCreated |
2010-11-8
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|
pubmed:abstractText |
CblC is the most common type of methylmalonic acidemia with homocysteinemia. MMACHC is the coding gene. This study aimed at understanding clinical features and gene mutations in 2 Chinese pedigrees who had late-onset methylmalonic acidemia complicated with homocysteinemia.
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pubmed:language |
chi
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Jun
|
|
pubmed:issn |
0578-1310
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
48
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
469-72
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pubmed:meshHeading |
pubmed-meshheading:21055272-Adolescent,
pubmed-meshheading:21055272-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:21055272-Asian Continental Ancestry Group,
pubmed-meshheading:21055272-Base Sequence,
pubmed-meshheading:21055272-Carrier Proteins,
pubmed-meshheading:21055272-Child,
pubmed-meshheading:21055272-Female,
pubmed-meshheading:21055272-Humans,
pubmed-meshheading:21055272-Methylmalonic Acid,
pubmed-meshheading:21055272-Mutation,
pubmed-meshheading:21055272-Pedigree,
pubmed-meshheading:21055272-Vitamin B 12
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|
pubmed:year |
2010
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|
pubmed:articleTitle |
[Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type].
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pubmed:affiliation |
Institute for Pediatric Research, Shenzhen Children's Hospital, Shenzhen 518026, China.
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|
