Search Results - "Loeffen, J L C M"

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I by Triepels, R. H., Van Den Heuvel, L. P., Loeffen, J. L. C. M., Buskens, C. A. F., Smeets, R. J. P., Rubio Gozalbo, M. E., Budde, S. M. S., Mariman, E. C., Wijburg, F. A., Barth, P. G., Trijbels, J. M. F., Smeitink, J. A. M.

“…Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and…”
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Nuclear Genes of Human Complex I of the Mitochondrial Electron Transport Chain: State of the Art by Smeitink, J. A. M., Loeffen, J. L. C. M., Triepels, R. H., Smeets, R. J. P., Trijbels, J. M. F., van den Heuvel, L. P.

“…The mitochondrial electron transport chain (mtETC) consists of four multi-subunit enzyme complexes. Complex I or NADH:ubiquinone oxidoreductase, the largest…”
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Ovarian tumour in a girl with chronic abdominal pain and distension by Loeffen, J L C M, Wijnen, M, Schijf, C P T, van Wieringen, P

“…A 12-year-old girl presented with chronic abdominal pain and distension that had persisted for 6 and 3 months, respectively. The cause was a Sertoli-Leydig…”
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