Neonatal Lactic Acidosis, Complex I/IV Deficiency, and Fetal Cerebral Disruption

Autor: H.L.M. van Straaten, L.P.W.J. van den Heuvel, L S de Vries, Marinus Duran, Markus Schuelke, J.M.F. Trijbels, Dirk Troost, Peter G. Barth, J. P. van Tintelen, J.M. Rozemuller

Publikováno v: Van Straaten, H L M, Van Tintelen, J P, Trijbels, J M F, Van Den Heuvel, L P, Troost, D, Rozemuller, J M, Duran, M, De Vries, L S, Schuelke, M & Barth, P G 2005, ' Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption ', Neuropediatrics, vol. 36, no. 3, pp. 193-199 . https://doi.org/10.1055/s-2005-865713
Neuropediatrics, 36, 3, pp. 193-9
Neuropediatrics, 36(3), 193-199. GEORG THIEME VERLAG KG
Neuropediatrics, 36, 193-9
Neuropediatrics, 36(3), 193-199. Hippokrates Verlag GmbH

Contains fulltext : 48941.pdf (Publisher’s version ) (Closed access) Cerebral developmental abnormalities occur in various inborn errors of metabolism including peroxisomal deficiencies, pyruvate dehydrogenase complex deficiency and others. Associa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888b197b7a18e0df27f19173534d59eb
https://doi.org/10.1055/s-2005-865713

[Untitled]

Autor: Jan A.M. Smeitink, J.M.F. Trijbels, L.P.W.J. van den Heuvel, Vincenza Dolce, Marjan Huizing, Wim Ruitenbeek, F. Palmieri, Vito Iacobazzi

Publikováno v: Journal of Bioenergetics and Biomembranes. 30:277-284

Mitochondrial transmembrane carrier deficiencies are a recently discovered group of disorders, belonging to the so-called mitochondriocytopathies. We examined the human tissue distribution of carriers which are involved in the process of oxidative ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::15a9db5a66020b99e3bad8cdca7da336
https://doi.org/10.1023/a:1020501021222

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

Autor: J.L.C.M. Loeffen, J.A.M. Smeitink, J.M.F. Trijbels, A.J.M. Janssen, R.H. Triepels, R.C.A. Sengers, L.P. van den Heuvel

Publikováno v: Human Mutation, 15, 2, pp. 123-134
Human Mutation, 15, 123-134

Item does not contain fulltext 12 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::464ebb7d23e291886a4744d860120d1e
https://hdl.handle.net/2066/144819

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients

Autor: G.H.J. Boers, A.F. Deutman, J.R.M. Cruysberg, J.M.F. Trijbels

Publikováno v: Bmj. British Medical Journal (Compact Ed.), 313, pp. 1037-1040
Bmj. British Medical Journal (Compact Ed.), 313, 1037-1040
Bmj. British Medical Journal (Compact Ed.), 313, 7064, pp. 1037-1040

Objective: To assess the causes for delay in the diagnosis of homocystinuria. Design: Clinical and laboratory data were collected from patients diagnosed as having homocystinuria due to cystathionine synthase deficiency, with special reference to the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25310d7b720b61d3574e6eb59854d768
https://pubmed.ncbi.nlm.nih.gov/9040342

Activity of purine phosphoribosyltransferases and of two enzymes of pyrimidine biosynthesis in erythrocytes of ten mammalian species

Autor: Jacques H. Veerkamp, Wil J.M. Tax, J.M.F. Trijbels

Publikováno v: Comparative Biochemistry and Physiology Part B: Comparative Biochemistry. 54:209-212

1. 1. Activities of HGPRT, APRT, OPRT and ODC have been determined in hemolysates from man and nine other mammalian species. 2. 2. HGPRT was found to be nearly absent from horse erythrocytes, while low activities were found in dog and rat erythrocyte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1316fdbb6e87c67c7b293af4c9391ec1
https://doi.org/10.1016/0305-0491(76)90144-9