Methylmalonic and propionic acidemias: clinical management update.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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Methylmalonic and propionic acidemias: clinical management update.

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Methylmalonic and propionic acidemias: clinical management update.

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Methylmalonic and propionic acidemias: clinical management update.

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P1476

Methylmalonic and propionic acidemias: clinical management update.

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P2093

Charles P Venditti

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Jamie L Fraser

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P2860

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines

Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia

Genetics of propionic acidemia in a Mennonite-Amish kindred

Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients

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scholarly article

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10.1097/MOP.0000000000000422

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2016-09-20T00:00:00Z

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