Zobrazeno 1 - 10 of 360 pro vyhledávání: '"W, Ruitenbeek"'
1
Myopathy in a Haflinger horse: An initiating search for a fatty acid oxidation deficiency
Autor: C.M. Westermann, Inge D. Wijnberg, J. H. van der Kolk, W. Ruitenbeek, Gerard H. Jansen
Publikováno v: Equine Veterinary Education. 20:532-538
Summary So far, the area of fat metabolism disturbances has been poorly explored in the horse but, as in man, deficiencies in the β-oxidation of fatty acids (FAOX) and in carnitine metabolism or carnitine transport potentially can be a cause of myop
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::afae80f12508237cbe0c13a5759301cf
https://doi.org/10.2746/095777308x343176
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2
Positron emission tomography and magnetic resonance spectroscopy of cerebral glycolysis in children with congenital lactic acidosis
Autor: Harald Kugel, W. Ruitenbeek, Klaus Wienhard, Bernhard Roth, W.-D. Heiss, Walter Heindel, D. B. Duncan, Karl Herholz
Publikováno v: Annals of Neurology, 37, 3, pp. 351-358
Annals of Neurology, 37, 351-358
Annals of Neurology, 37, pp. 351-358
Congenital lactic acidosis with neurological symptoms may be due to a variety of disorders of energy metabolism. We investigated whether positron emission tomography (PET) and proton magnetic resonance spectroscopy (1H MRS) are capable of demonstrati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db68641f2bd98d3c5c54efc29df1a818
https://doi.org/10.1002/ana.410370311
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3
Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria
Autor: Bernhard Lohkamp, Judith Meijer, C Buzing, Jeroen Roelofsen, M. Duran, Doreen Dobritzsch, A. B. P. Van Kuilenburg, Nico G.G.M. Abeling, W Ruitenbeek
Publikováno v: Nucleosides, nucleotides & nucleic acids, 27(6), 809-815. Marcel Dekker Inc.
A patient with hematuria was shown to have thymine-uraciluria. The dihydropyrimidine dehydrogenase (DPD) activity in peripheral blood mononuclear cells was 0.16 nmol/mg/h; controls: 9.9 +/- 2.8 nmol/mg/h. Analysis of DPYD showed that the patient was
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18c8a3594d177110b0ae61eb28f2032b
https://pure.amc.nl/en/publications/identification-of-two-novel-mutations-c79x-and-r235q-in-the-dihydropyrimidine-dehydrogenase-gene-in-a-patient-presenting-with-hematuria(7ce598aa-d968-47c6-9d49-c32b97f40280).html
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4
Congenital lactic acidemia caused by lipoamide dehydrogenase deficiency with favorable outcome
Autor: N. Amir, Orly Elpeleg, W. Ruitenbeek, V. Barash, C. Jakobs, Darryl C. De Vivo
Publikováno v: Journal of Pediatrics, 126, 1, pp. 72-74
Journal of Pediatrics, 126, 72-74
Journal of Pediatrics, 126, pp. 72-74
A 5-year-old boy had recurrent vomiting and lethargy with lacticacidemia and ketoacidemia since birth. Lipoamide dehydrogenase deficiency was found in muscle and fibroblasts. Therapy with sodium dichloroacetate, thiamine, and carnitine was associated
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e764edd2149eeb9ceb6ec84681f24f3
https://hdl.handle.net/2066/255764
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5
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome
Autor: I F, De Coo, W O, Renier, W, Ruitenbeek, H J, Ter Laak, M, Bakker, H, Schägger, B A, Van Oost, H J, Smeets
Publikováno v: Annals of neurology. 45(1)
Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b) gene. In 1 patient, a young boy with an akinetic rigid syndrome and a mitochondria
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::01bd1e7d0438f251607de36d72274ea8
https://pubmed.ncbi.nlm.nih.gov/9894888
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6
Cytoarchitectural and metabolic adaptations in muscles with mitochondrial and cytosolic creatine kinase deficiencies
Autor: K, Steeghs, F, Oerlemans, A, de Haan, A, Heerschap, L, Verdoodt, M, de Bie, W, Ruitenbeek, A, Benders, C, Jost, J, van Deursen, P, Tullson, R, Terjung, P, Jap, W, Jacob, D, Pette, B, Wieringa
Publikováno v: Molecular and cellular biochemistry. 184(1-2)
We have blocked creatine kinase (CK) mediated phosphocreatine (PCr)==ATP transphosphorylation in mitochondria and cytosol of skeletal muscle by knocking out the genes for the mitochondrial (ScCKmit) and the cytosolic (M-CK) CK isoforms in mice. Anima
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1c5b5b43a9aa48b4de48db6fe17921b5
https://pubmed.ncbi.nlm.nih.gov/9746321
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7
Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders
Autor: M, Huizing, W, Ruitenbeek, L P, van den Heuvel, V, Dolce, V, Iacobazzi, J A, Smeitink, F, Palmieri, J M, Trijbels
Publikováno v: Journal of bioenergetics and biomembranes. 30(3)
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=pmid________::482284ece7e07156163efc3b255d4c93
https://pubmed.ncbi.nlm.nih.gov/9733094
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9
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency
Autor: C, Dionisi-Vici, W, Ruitenbeek, G, Fariello, H, Bentlage, R J, Wanders, H, Schägger, C, Bosman, C, Piantadosi, G, Sabetta, E, Bertini
Publikováno v: Annals of neurology. 42(4)
Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2c1e0938406fd1de810c3e080563ebf9
https://pubmed.ncbi.nlm.nih.gov/9382480
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10
Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex
Autor: F J, Trijbels, W, Ruitenbeek, M, Huizing, U, Wendel, J A, Smeitink, R C, Sengers
Publikováno v: Molecular and cellular biochemistry. 174(1-2)
Disturbances in substrate oxidations in muscle mitochondria from patients with a suspicion of a mitochondrial myopathy may arise from a deficiency of one or more of the complexes of the respiratory chain or of the pyruvate dehydrogenase complex. Howe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0d10f6f8ad8275ad83738e8c311fabe8
https://pubmed.ncbi.nlm.nih.gov/9309695
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