3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
about
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.Molecular basis of 3-hydroxy-3-methylglutaric aciduria.3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult.
P2860
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
@en
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
@nl
type
label
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
@en
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
@nl
prefLabel
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
@en
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
@nl
P2093
P356
P1476
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
@en
P2093
C L Greene
K M Gibson
M G Blitzer
P Ferreira
P2888
P356
10.1007/BF01800058
P577
1988-01-01T00:00:00Z