Zobrazeno 1 - 10
of 98
pro vyhledávání: '"L. Bruinvis"'
Autor:
L. Bruinvis, Terttu Suormala, B. T. Poll-The, Jan A.M. Smeitink, Marinus Duran, E. R. Baumgartner, Lambertus Dorland
Publikováno v:
Journal of inherited metabolic disease, 16(3), 513-516. Springer Netherlands
Biotinidase deficiency (McKusick 253260) leads to a progressive deficiency of the vitamin biotin, an essential cofactor for the carboxylation reactions of pyruvate, propionyl-CoA, 3-methylcrotonyl-CoA and acetyl-CoA. This disease usually presents wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::042243a85404e890e9a6a40f0a83951e
https://doi.org/10.1007/bf00711668
https://doi.org/10.1007/bf00711668
Autor:
Rja Wanders, D. Ketting, L. Ijlst, Marinus Duran, F. J. van Sprang, Lambertus Dorland, L. Bruinvis, J. P. de Jager
Publikováno v:
European journal of pediatrics, 150(3), 190-195. Springer Verlag
Two siblings were found to be affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, one of which died suddenly and unexpectedly on the 3rd day of life suffering from extreme hypoketotic hypoglycaemia. The younger sibling started to have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92258564e02a8f719dc20b8c0e9067b6
https://doi.org/10.1007/bf01963564
https://doi.org/10.1007/bf01963564
Publikováno v:
Padiatrie und Padologie. 28(1)
Inherited defects of mitochondrial beta-oxidation of fatty acids lead to hypoketotic hypoglycemia during prolonged fasting. Affected patients may present with episodes of a Reye-like illness or even sudden child death. The number of currently detecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::21c3adfd1b6bfe659bcf34980206c68a
https://pubmed.ncbi.nlm.nih.gov/8446424
https://pubmed.ncbi.nlm.nih.gov/8446424
Publikováno v:
Biomedical chromatography : BMC. 5(4)
Medium- and long-chain 3-hydroxymonocarboxylic acids represent intermediates in the beta-oxidation of fatty acids: they accumulate in the plasma of patients with an inherited deficiency of long-chain 3-hydroxyacylcoenzyme A dehydrogenase. 3-Hydroxy a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4a7ee482cbaf81a7e0d54e004262f05
https://pubmed.ncbi.nlm.nih.gov/1912723
https://pubmed.ncbi.nlm.nih.gov/1912723
Publikováno v:
The Journal of Pediatrics. 101:551-554
Two brothers, aged 7 and 5 years, who excreted large amounts of the leucine metabolites 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid, are described. The excretion of these metabolites could be enhanced by increasing th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b003a267c650013fb16f74b096158899
https://doi.org/10.1016/s0022-3476(82)80698-7
https://doi.org/10.1016/s0022-3476(82)80698-7
Autor:
Johannes F.G. Vliegenthart, D. Ketting, Johannis P. Kamerling, L. Bruinvis, Gerrit J. Gerwig, Marinus Duran, Sybe K. Wadman
Publikováno v:
Journal of Chromatography B: Biomedical Sciences and Applications. 222:276-283
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b46a03c943559bdd91955edd9f204e38
https://doi.org/10.1016/s0378-4347(00)81061-0
https://doi.org/10.1016/s0378-4347(00)81061-0
Publikováno v:
Clinical Chemistry. 34:548-551
The profile of organic acids in plasma of patients with a deficiency of medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) was determined by gas-liquid chromatography of trimethylsilylated derivatives of the acids isolated by ethyl acetate extraction.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb0e2c4d630591480a2a88451529c596
https://doi.org/10.1093/clinchem/34.3.548
https://doi.org/10.1093/clinchem/34.3.548
Autor:
J.P. Farriaux, Beat Steinmann, Sybe K. Wadman, B. Cartigny, Rudolphus Berger, James V. Leonard, F. J. van Sprang, Marinus Duran, L. Bruinvis, Gerrit Smit, P. Divry, D. Ketting
Publikováno v:
Clinica Chimica Acta. 130:231-238
1. 1. The metabolic fate of orally given deuterated L-tyrosine, 50 mg/kg body weight, was investigated in seven patients with tyrosinemia type I in order to obtain evidence that the primary defect is at the level of fumarylacetoacetase. 2. 2. The abs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9faec5af999279f660372f7484ee84d9
https://doi.org/10.1016/0009-8981(83)90120-1
https://doi.org/10.1016/0009-8981(83)90120-1
Autor:
F.A. Hommes, Sybe K. Wadman, L. Bruinvis, C.J. Groot, Marinus Duran, D. Ketting, Johannis P. Kamerling
Publikováno v:
Clinica chimica acta, 77(3), 397-405. ELSEVIER SCIENCE BV
An unknown acidic compound was detected in a number of urine samples from patients with a suspected metabolic disorder and some patients treated with chemotherapy. The structure of this compound has been characterized as (2-ethoxyethoxy)acetic acid,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c34fe5acae1844d4958ef496ad86a6
https://doi.org/10.1016/0009-8981(77)90246-7
https://doi.org/10.1016/0009-8981(77)90246-7
Autor:
L. Bruinvis, Johannes F.G. Vliegenthart, D. Ketting, Sybe K. Wadman, Johannis P. Kamerling, Marinus Duran
Publikováno v:
Clinica Chimica Acta. 125:247-254
The absolute configuration of urinary 5-hydroxyhexanoic acid was determined by means of capillary gas-liquid chromatography of the O- D -2-phenylpropionylated methyl ester derivatives on SE-30 as stationary phase. In three patients with non-ketotic d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4ebe278d2d46b731521bb3e9822f143
https://doi.org/10.1016/0009-8981(82)90254-6
https://doi.org/10.1016/0009-8981(82)90254-6