Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
about
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screeningFlavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiencySevere infantile hypotonia with ethylmalonic aciduria: case reportNeuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screeningClinical aspects of short-chain acyl-CoA dehydrogenase deficiency.Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsThe domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenaseAltered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
P2860
Q24312099-D1383F67-22E3-4145-A041-984EDF126F4BQ28266286-433A7626-307F-47CC-AE25-281873DBC8CEQ28283152-E994DD84-9BCB-4ACA-867C-4588051E33F0Q34065034-141BB9AC-3A43-4933-AAD3-6EAAB5BF67A5Q34159245-33497A16-40CB-4698-9A01-4A73C44C7C42Q34378278-299ADF2E-1BB1-4613-AB1B-23BEF05D4020Q35144068-8B65B0A8-2219-42C5-AB72-E5F1A18C0CC7Q38071279-86A4CE5B-1A8A-4F53-B27D-1A5020F3202BQ38396038-D1572222-19BA-4B95-8946-645825A81C68Q40798605-C1EBB2B9-D872-471B-84C1-8937D957A020
P2860
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
description
2000 nî lūn-bûn
@nan
2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@ast
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@en
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@nl
type
label
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@ast
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@en
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@nl
prefLabel
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@ast
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@en
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@nl
P356
P1476
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.
@en
P2093
P2888
P304
P356
10.1007/PL00014406
P478
159 Suppl 3
P577
2000-12-01T00:00:00Z
P6179
1052171434