HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
about
Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosolCrystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduriaInvestigation of conserved acidic residues in 3-hydroxy-3-methylglutaryl-CoA lyase: implications for human disease and for functional roles in a family of related proteinsMitochondrial disease in superoxide dismutase 2 mutant miceMutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi populationInfluence of multiple cysteines on human 3-hydroxy-3-methylglutaryl-CoA lyase activity and formation of inter-subunit adductsEvaluation of diagnostic fasting in the investigation of hypoglycemia in children omani experienc.Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.Molecular basis of 3-hydroxy-3-methylglutaric aciduria.Genomewide association analysis of sow lactation performance traits in lines of Yorkshire pigs divergently selected for residual feed intake during grow-finish phase.Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients
P2860
Q24294455-364A81CF-6C74-43AE-BD71-237009CC88B4Q24298101-80E5AA25-1330-41DB-9C5B-8F6AB3160689Q28188699-4326C70E-00F3-42DD-956D-4DC6607DAF2FQ28513450-B6717685-3B1F-44DF-A89A-443B8D14D665Q33266841-D707BF81-C786-4B5D-A439-AD3D2E6666A7Q35089041-30227637-CC35-41BC-889A-ECD76F2AD873Q42602383-A45B2F78-A9DC-40EB-AF68-7E3C7186F65CQ44440620-29363523-163E-4954-A362-D58A36156160Q44911924-91F7B3C6-FA67-42EF-8B2D-4DA566A80FDEQ50629790-271F0A65-CB70-4D84-9A4F-B4E6012903E7Q51457899-C6906171-90EB-4420-98EF-C455C120B6D6Q55670918-9D3D1B5B-C9C6-4571-9828-A0FAF957886E
P2860
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
description
1998 nî lūn-bûn
@nan
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@ast
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@en
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@nl
type
label
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@ast
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@en
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@nl
prefLabel
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@ast
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@en
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@nl
P2093
P2860
P356
P1476
HMG CoA lyase deficiency: iden ...... Saudi Arabian mutation, R41Q.
@en
P2093
G A Mitchell
H Miziorko
I Chevalier
K M Gibson
L Ashmarina
M F Robert
R J Wanders
P2860
P304
P356
10.1086/301730
P407
P577
1998-02-01T00:00:00Z