Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

Item
http://www.wikidata.org/entity/Q28304229
Crystal Structures of Malonyl-Coenzyme A Decarboxylase Provide Insights into Its Catalytic Mechanism and Disease-Causing MutationsDetection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genesThe consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed caseMaternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
P2860

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

Item
http://www.wikidata.org/entity/Q28304229
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@ast
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@en
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@nl
type
label
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@ast
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@en
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@nl
prefLabel
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@ast
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@en
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Fatal malonyl CoA decarboxylas ...... telomeric end of chromosome 16
@en
P2093
P2860
P304
P31
P356
10.1111/J.1469-1809.2007.00373.X
P407
P433
P478
P50
P577
P5875
P698
P921