31
TITLE: Identification of PEX7 as the second gene involved in Refsum disease
AUTHORS: Van den Brink, DM; Brites, P; Haasjes, J; Wierzbicki, AS; Mitchell, J; Lambert Hamill, M; De Belleroche, J; Jansen, GA; Waterham, HR; Wanders, RJA;
PUBLISHED: 2003, SOURCE: International Symposium on Peroxisomal Disorders and Requlation of Genes in PEROXISOMAL DISORDERS AND REGULATION OF GENES, VOLUME: 544
INDEXED IN: WOS
32
TITLE: Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
AUTHORS: Motley, AM; Brites, P; Gerez, L; Hogenhout, E; Haasjes, J; Benne, R; Tabak, HF; Wanders, RJA; Waterham, HR;
PUBLISHED: 2002, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 70, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
33
TITLE: Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS  Full Text
AUTHORS: Silva, MFB ; Selhorst, J; Overmars, H; van Gennip, AH; Maya, M; Wanders, RJA; de Almeida, IT ; Duran, M;
PUBLISHED: 2001, SOURCE: CLINICAL BIOCHEMISTRY, VOLUME: 34, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
35
TITLE: Valproate induces in vitro accumulation of long-chain fatty acylcarnitines  Full Text
AUTHORS: Silva, MFB ; Jakobs, C; Duran, M; de Almeida, IT ; Wanders, RJA;
PUBLISHED: 2001, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 73, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
36
TITLE: Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites  Full Text
AUTHORS: Silva, MFB ; Ruiter, JPN; IJlst, L; Allers, P; ten Brink, HJ; Jakobs, C; Duran, M; de Almedia, IT; Wander, RJA;
PUBLISHED: 2001, SOURCE: ANALYTICAL BIOCHEMISTRY, VOLUME: 290, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
37
TITLE: Quantitative acylcarnitine profiling in fibroblasts using [U-C-13] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects  Full Text
AUTHORS: Ventura, FV; Costa, CG; Struys, EA; Ruiter, J; Allers, P; Ijlst, L; de Almeida, T; Duran, M; Jakobs, C; Wanders, RJA;
PUBLISHED: 1999, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 281, ISSUE: 1-2
INDEXED IN: Scopus WOS CrossRef: 49
38
TITLE: Lactic acidosis in long-chain fatty acid beta-oxidation disorders  Full Text
AUTHORS: Ventura, FV; Ruiter, JPN; Ijlst, L; De Almeida, IT; Wanders, RJA;
PUBLISHED: 1998, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 21, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 22
39
TITLE: Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates - Evidence for a reverse carnitine cycle in mitochondria  Full Text
AUTHORS: Ventura, FV; Ijlst, L; Ruiter, J; Ofman, R; Costa, CG; Jakobs, C; Duran, M; De Almeida, IT ; Bieber, LL; Wanders, RJA;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF BIOCHEMISTRY, VOLUME: 253, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
40
TITLE: L-2-hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients  Full Text
AUTHORS: Wanders, RJA; Vilarinho, L; Hartung, HP; Hoffmann, GF; Mooijer, PAW; Jansen, GA; Huijmans, JGM; deKlerk, JBC; tenBrink, HJ; Jakobs, C; Duran, M;
PUBLISHED: 1997, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 20, ISSUE: 5
INDEXED IN: WOS CrossRef: 10
Página 4 de 5. Total de resultados: 46.