Diagnosis and treatment of C3 glomerulopathy in a center of expertise

Autor: Koopman, JJE, Teng, YKO, Boon, CJF, van den Heuvel, LP, Rabelink, TJ, van Kooten, C, de Vries, APJ

C3 glomerulopathy is a rare renal disease that has been distinguished as a renal disease for about 10 years. It is caused by an excessive activation of the alternative complement pathway in the circulation, which leads to deposition of complement fac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1131::ed557bbf9f47eaac026c54557febba88
https://lirias.kuleuven.be/handle/123456789/670582

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

Autor: Rodenburg, RJT, Schoonderwoerd, Kees, Tiranti, V, Taylor, RW, Rotig, A, Valente, L, Invernizzi, F, Chretien, D, He, L, Backx, GPBM, Janssen, KJGM, Chinnery, PF, Smeets, HJ, Coo, IFM, van den Heuvel, LP

Publikováno v: Mitochondrion, 13, 1, pp. 36-43
Mitochondrion, 13(1), 36-43. ELSEVIER SCI LTD
Mitochondrion, 13, 36-43
Mitochondrion, 13(1), 36-43. Elsevier

A multicenter comparison of mitochondrial respiratory chain and complex V enzyme activity tests was performed. The average reproducibility of the enzyme assays is 16% in human muscle samples. In a blinded diagnostic accuracy test in patient fibroblas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a6df000359c989c4d32b0494f3a6be09
https://hdl.handle.net/2066/118214

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex

Autor: Scacco S 1, Petruzzella V 1, Budde S 2, Vergari R 1, Tamborra R 1, Panelli D 1, van den Heuvel LP 2, Smeitink JA 2, Papa S 1

Publikováno v: 278 (2003): 44161–44167.
info:cnr-pdr/source/autori:Scacco S 1, Petruzzella V 1, Budde S 2, Vergari R 1, Tamborra R 1, Panelli D 1, van den Heuvel LP 2, Smeitink JA 2, Papa S 1,3./titolo:Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex./doi:/rivista:/anno:2003/pagina_da:44161/pagina_a:44167/intervallo_pagine:44161–44167/volume:278

Presented is a study of the impact on the structure and function of human complex I of three different homozygous mutations in the NDUFS4 gene coding for the 18-kDa subunit of respiratory complex I, inherited by autosomal recessive mode in three chil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::3f6652f48adf911a5e66a575af29c563
http://www.cnr.it/prodotto/i/12693

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency

Autor: Frans J.M. Trijbels, U. Wendel, Erik M. B. Stevens, Leo A. J. Kluijtmans, Henk J. Blom, van den Heuvel Lp

Publikováno v: European Journal of Human Genetics, 6, pp. 257-265
European Journal of Human Genetics, 6, 257-265

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is an inborn error of folate metabolism, and is inherited as an autosomal recessive trait. MTHFR is a key enzyme in folate-dependent remethylation of homocysteine, and reduces 5,10-methyle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbc1e25baa5676875f7043b7f8d63357
https://repository.ubn.ru.nl/handle/2066/265201

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