Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jos P N, Ruiter"'
Autor:
Florin Sasarman, Sacha Ferdinandusse, David S. Sinasac, Ernest Fung, Rebecca Sparkes, Melanie Reeves, Catherine Rombough, Jörn Oliver Sass, Renate Voit, Jos P. N. Ruiter, Janet Koster, Hans R. Waterham, Elisabetta Pasquini, Maria A. Donati, Thorsten Marquardt, Ronald J. A. Wanders, Walla Al‐Hertani
Publikováno v:
Journal of inherited metabolic disease, 45(3), 445-455. Springer Netherlands
Sasarman, F, Ferdinandusse, S, Sinasac, D S, Fung, E, Sparkes, R, Reeves, M, Rombough, C, Sass, J R O, Voit, R, Ruiter, J P N, Koster, J, Waterham, H R, Pasquini, E, Donati, M A, Marquardt, T, Wanders, R J A & Al-Hertani, W 2022, ' 3-Hydroxyisobutyric acid dehydrogenase deficiency : Expanding the clinical spectrum and quantitation of D-and L-3-Hydroxyisobutyric acid by an LC–MS/MS method ', Journal of Inherited Metabolic Disease, vol. 45, no. 3, pp. 445-455 . https://doi.org/10.1002/jimd.12486
Journal of Inherited Metabolic Disease, 45(3), 445-455. Springer Netherlands
Sasarman, F, Ferdinandusse, S, Sinasac, D S, Fung, E, Sparkes, R, Reeves, M, Rombough, C, Sass, J R O, Voit, R, Ruiter, J P N, Koster, J, Waterham, H R, Pasquini, E, Donati, M A, Marquardt, T, Wanders, R J A & Al-Hertani, W 2022, ' 3-Hydroxyisobutyric acid dehydrogenase deficiency : Expanding the clinical spectrum and quantitation of D-and L-3-Hydroxyisobutyric acid by an LC–MS/MS method ', Journal of Inherited Metabolic Disease, vol. 45, no. 3, pp. 445-455 . https://doi.org/10.1002/jimd.12486
Journal of Inherited Metabolic Disease, 45(3), 445-455. Springer Netherlands
A deficiency of 3-hydroxyisobutyric acid dehydrogenase (HIBADH) has been recently identified as a cause of primary 3-hydroxyisobutyric aciduria in two siblings; the only previously recognized primary cause had been a deficiency of methylmalonic semia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de42948885439dd23c5e3881b2097d9e
https://doi.org/10.1002/jimd.12486
https://doi.org/10.1002/jimd.12486
Autor:
Marit Schwantje, Merel S. Ebberink, Mirjam Doolaard, Jos P. N. Ruiter, Sabine A. Fuchs, Niklas Darin, Carola Hedberg‐Oldfors, Luc Régal, Laura Donker Kaat, Hidde H. Huidekoper, Simon Olpin, Duncan Cole, Stuart J. Moat, Gepke Visser, Sacha Ferdinandusse
Publikováno v:
Journal of inherited metabolic disease, 45(4), 819-831. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 819-831. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 819-831. Springer Netherlands
Mitochondrial trifunctional protein (MTP) is involved in long-chain fatty acid β-oxidation (lcFAO). Deficiency of one or more of the enzyme activities as catalyzed by MTP causes generalized MTP deficiency (MTPD), long-chain hydroxyacyl-CoA dehydroge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b7b39d5e59dc3763f84572ce73902c
https://pubmed.ncbi.nlm.nih.gov/35403730
https://pubmed.ncbi.nlm.nih.gov/35403730
Autor:
Margarida F. B. SILVA, Jos P. N. RUITER, Henk OVERMARS, Albert H. BOOTSMA, Albert H. van GENNIP, Cornelis JAKOBS, Marinus DURAN, Isabel TAVARES de ALMEIDA, Ronald J. A. WANDERS
Publikováno v:
Biochemical Journal. 362:755-760
The β-oxidation of valproic acid (VPA; 2-n-propylpentanoic acid) was investigated in vitro in intact rat liver mitochondria incubated with 3H-labelled VPA. The metabolism of [4,5-3H2]VPA and [2-3H]VPA was studied by analysing the different acyl-CoA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bdeb9fc87be3cab814186f3f6cd67a73
https://doi.org/10.1042/bj3620755
https://doi.org/10.1042/bj3620755
Autor:
Margarida F B, Silva, Jos P N, Ruiter, Henk, Overmars, Albert H, Bootsma, Albert H, van Gennip, Cornelis, Jakobs, Marinus, Duran, Isabel, Tavares de Almeida, Ronald J A, Wanders
Publikováno v:
The Biochemical journal. 362(Pt 3)
The beta-oxidation of valproic acid (VPA; 2-n-propylpentanoic acid) was investigated in vitro in intact rat liver mitochondria incubated with (3)H-labelled VPA. The metabolism of [4,5-(3)H(2)]VPA and [2-(3)H]VPA was studied by analysing the different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9448fc077f7d8d9952b789dd2e49a8b3
https://pubmed.ncbi.nlm.nih.gov/11879205
https://pubmed.ncbi.nlm.nih.gov/11879205