Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
about
Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosolCharacterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathwayDifferential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.Prevention of Dietary-Fat-Fueled Ketogenesis Attenuates BRAF V600E Tumor Growth.Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
P2860
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P2860
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
description
2009 nî lūn-bûn
@nan
2009 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մարտին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@ast
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@en
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@nl
type
label
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@ast
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@en
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@nl
prefLabel
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@ast
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@en
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@nl
P2093
P50
P356
P1433
P1476
Ten novel HMGCL mutations in 2 ...... oxy-3-methyl-glutaric aciduria
@en
P2093
Angeles Pié
Antonia Ribes
Beatriz Puisac
Cecilia Mir
Celia Pérez-Cerda
Eduardo López-Viñas
Esther Gratacós
Fausto G Hegardt
Feliciano J Ramos
Guillermina Asins
P304
P356
10.1002/HUMU.20966
P407
P577
2009-03-01T00:00:00Z