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

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

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http://www.wikidata.org/entity/Q28145259
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolismHigh incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylaseAnalysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemiaStructure and function of biotin-dependent carboxylasesTranscarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme coreRecapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytesEffects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia.Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia.Chronic kidney disease in an adult with propionic acidemia.A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing.Methylmalonic and propionic acidemias: clinical management update.Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy.Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis
P2860

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

Item
http://www.wikidata.org/entity/Q28145259
description
1999 nî lūn-bûn
@nan
1999 թուականին հրատարակուած գիտական յօդուած
@hyw
1999 թվականին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@ast
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@en
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@nl
type
label
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@ast
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@en
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@nl
prefLabel
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@ast
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@en
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@nl
P1433
P1476
P2093
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P3181
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P1476
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
@en
P2093
P304
P31
P3181
P356
10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.3.CO;2-E
P407
P433
P478
P577
P698