Detalles de la búsqueda
1.
Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.
Mol Genet Metab
; 122(1-2): 100-106, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28751108
2.
Advances in methods for characterization of hepatic urea cycle enzymatic activity in HepaRG cells using UPLC-MS/MS.
Anal Biochem
; 535: 47-55, 2017 10 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28757091
3.
Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters.
Biochim Biophys Acta
; 1842(12 Pt A): 2510-6, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23643712
4.
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.
J Inherit Metab Dis
; 36(2): 271-9, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22968582
5.
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Nat Genet
; 17(2): 190-3, 1997 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-9326940
6.
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
J Inherit Metab Dis
; 35(6): 1021-9, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22350545
7.
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
Neuropediatrics
; 42(1): 13-7, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21500142
8.
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review.
J Inherit Metab Dis
; 31(2): 205-16, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18392741
9.
[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]. / De vetzuuroxidatiestoornis 'short chain'-acyl-CoA-dehydrogenase- deficiëntie: relatief hoge prevalentie en sterk wisselend fenotype; neonatale screening niet geïndiceerd.
Ned Tijdschr Geneeskd
; 152(30): 1678-85, 2008 Jul 26.
Artículo
en Neerlandesa
| MEDLINE | ID: mdl-18714522
10.
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
J Clin Invest
; 98(4): 1028-33, 1996 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-8770876
11.
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
J Clin Invest
; 102(3): 527-31, 1998 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-9691089
12.
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.
J Clin Invest
; 102(6): 1193-9, 1998 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-9739053
13.
Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae.
Mol Cell Biol
; 21(13): 4321-9, 2001 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-11390660
14.
Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients.
Biochim Biophys Acta
; 1138(1): 80-4, 1992 Jan 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-1737072
15.
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.
Biochim Biophys Acta
; 1215(3): 347-50, 1994 Dec 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-7811722
16.
2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation.
Biochim Biophys Acta
; 1393(1): 35-40, 1998 Jul 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-9714723
17.
A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MS.
Biochim Biophys Acta
; 1180(1): 28-32, 1992 Oct 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-1390941
18.
Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin permeabilized fibroblasts: implications for long-chain fatty acid beta-oxidation disorders.
Biochim Biophys Acta
; 1272(1): 14-20, 1995 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-7662716
19.
In silicio search for genes encoding peroxisomal proteins in Saccharomyces cerevisiae.
Cell Biochem Biophys
; 32 Spring: 1-8, 2000.
Artículo
en Inglés
| MEDLINE | ID: mdl-11330035
20.
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome.
J Neurol Sci
; 183(1): 61-7, 2001 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-11166796