Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Verhoeven, N M"'
Publikováno v:
European Journal of Pediatrics. 1997 Supplement 1, Vol. 156, pS83-S87. 5p.
Publikováno v:
Wamelink, M M C, Starreveld, J S, Van Der Knaap, M S, Verhoeven, N M & Jakobs, C 2003, ' Een zuigeling met 'failure to thrive' en ontwikkelingsachterstand ', Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde, vol. 28, no. 6, pp. 363-367 .
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders with a defect in protein glycosylation. Since the discovery of the phosphomannomutase-deficiency causing CDG-Ia in 1995, 17 different defects in protein glycosyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10172::6dd7d8cf119d3bd6e8709cfb4d2b8c7d
https://research.vumc.nl/en/publications/419c1b82-b952-4bb7-87b2-56310084a427
https://research.vumc.nl/en/publications/419c1b82-b952-4bb7-87b2-56310084a427
Autor:
Zomer, A. W., Jansen, G. A., van der Burg, B., Verhoeven, N. M., Jakobs, C., van der Saag, P. T., Wanders, R. J., Poll-The, B. T.
Publikováno v:
European Journal of Biochemistry / FEBS, 267(13), 4063-4067. Wiley-Blackwell
Phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) is a branched-chain fatty acid present in various dietary products such as milk, cheese and fish. In patients with Refsum disease, accumulation of phytanic acid occurs due to a deficiency of phyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::4cb6f5e19476d2eb28d0275d54492173
https://pure.amc.nl/en/publications/phytanoylcoa-hydroxylase-activity-is-induced-by-phytanic-acid(53d9ddd6-e9ec-4751-a073-87f1889d0c00).html
https://pure.amc.nl/en/publications/phytanoylcoa-hydroxylase-activity-is-induced-by-phytanic-acid(53d9ddd6-e9ec-4751-a073-87f1889d0c00).html
Autor:
Verhoeven, N. M., Schor, D. S., Struys, E. A., Jansen, E. E., ten Brink, H. J., Wanders, R. J., Jakobs, C.
Publikováno v:
Journal of lipid research, 40(2), 260-266. American Society for Biochemistry and Molecular Biology Inc.
In this paper we report the development of highly sensitive, selective, and accurate stable isotope dilution gas chromatography negative chemical ionization mass spectrometry (GC-NCI-MS) methods for quantification of peroxisomal beta-oxidation interm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::39e3b5eaabb94101f2af0e7ecfee91d2
https://pure.amc.nl/en/publications/analysis-of-pristanic-acid-betaoxidation-intermediates-in-plasma-from-healthy-controls-and-patients-affected-with-peroxisomal-disorders-by-stable-isotope-dilution-gas-chromatography-mass-spectrometry(78366523-7dc5-4ae5-96a4-fdeead0c2efe).html
https://pure.amc.nl/en/publications/analysis-of-pristanic-acid-betaoxidation-intermediates-in-plasma-from-healthy-controls-and-patients-affected-with-peroxisomal-disorders-by-stable-isotope-dilution-gas-chromatography-mass-spectrometry(78366523-7dc5-4ae5-96a4-fdeead0c2efe).html
Autor:
Jansen, G. A., Ferdinandusse, S., Hogenhout, E. M., Verhoeven, N. M., Jakobs, C., Wanders, R. J.
Publikováno v:
Advances in experimental medicine and biology, 466, 371-376. Springer New York
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::3d78174926fc9fd17fd6e50c005c2ae3
https://pure.amc.nl/en/publications/phytanoylcoa-hydroxylase-deficiency-enzymological-and-molecular-basis-of-classical-refsum-disease(9e07d797-ab45-49f8-bd2a-4e17f91524ae).html
https://pure.amc.nl/en/publications/phytanoylcoa-hydroxylase-deficiency-enzymological-and-molecular-basis-of-classical-refsum-disease(9e07d797-ab45-49f8-bd2a-4e17f91524ae).html
Autor:
Baumgartner, M. R., Verhoeven, N. M., Jakobs, C., Roels, F., Espeel, M., Martinez, M., Rabier, D., Wanders, R. J., Saudubray, J. M.
Publikováno v:
Neurology, 51(5), 1427-1432. Lippincott Williams and Wilkins
OBJECTIVE: Characterization of the defect in a patient presenting a peripheral neuropathy with atypical features of distal motor involvement mimicking Werdnig-Hoffmann disease. PATIENT: Clinical signs included generalized hypotonia and floppiness, ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::26f13883a281313a4fa48bf3c0a13c83
https://pure.amc.nl/en/publications/defective-peroxisome-biogenesis-with-a-neuromuscular-disorder-resembling-werdnighoffmann-disease(4d4da673-3b82-405d-a3df-0dc9c8bfef7c).html
https://pure.amc.nl/en/publications/defective-peroxisome-biogenesis-with-a-neuromuscular-disorder-resembling-werdnighoffmann-disease(4d4da673-3b82-405d-a3df-0dc9c8bfef7c).html
Publikováno v:
Journal of lipid research, 39(1), 66-74. American Society for Biochemistry and Molecular Biology Inc.
The relationship between peroxisomal and mitochondrial oxidation of the methyl branched fatty acids, phytanic acid and pristanic acid, was studied in normal and mutant human skin fibroblasts with established enzyme deficiencies. Tandem mass spectrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::24d57d08eb2dee32c840152dc2bf2013
https://pure.amc.nl/en/publications/phytanic-acid-and-pristanic-acid-are-oxidized-by-sequential-peroxisomal-and-mitochondrial-reactions-in-cultured-fibroblasts(3880eeaf-8f71-4b6d-8de2-60b8c1bdc188).html
https://pure.amc.nl/en/publications/phytanic-acid-and-pristanic-acid-are-oxidized-by-sequential-peroxisomal-and-mitochondrial-reactions-in-cultured-fibroblasts(3880eeaf-8f71-4b6d-8de2-60b8c1bdc188).html
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