Výsledky vyhledávání - "C. S. van Woerden"

Primary hyperoxaluria Type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort

Autor: C. S. van Woerden, Jaap W. Groothoff, S. M. Van der Hoeven

Publikováno v: Nephrology, dialysis, transplantation, 27(10), 3855-3862. Oxford University Press

Background. Primary hyperoxaluria Type 1, an inherited disorder with increased endogenous oxalate production, leads to the development of urolithiasis, nephrocalcinosis and end-stage renal disease (ESRD). Contrary to the general belief that patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3157a6d02230b6daae21c7d8013264ca
https://doi.org/10.1093/ndt/gfs320

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[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene]

Autor: C S, van Woerden, J W, Groothof, R J A, Wanders, H R, Waterham, F R, Wijburg

Publikováno v: Nederlands tijdschrift voor geneeskunde. 150(30)

Primary hyperoxaluria type I (PH1) is a congenital defect in glyoxylate metabolism caused by a deficiency in the liver-specific peroxisomal enzyme known as alanine glyoxylate aminotransferase (AGT). The deficiency is due to mutations in the AGXT gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::64e7d75d7289a2d3898a7fac73a9ebd2
https://pubmed.ncbi.nlm.nih.gov/16922352

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The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots

Autor: M. van der Vlies, Marinus Duran, L. L. Bobu, R. J. A. Wanders, C. S. van Woerden, Frits A. Wijburg, B. T. van Maldegem, Hans R. Waterham

Publikováno v: Journal of inherited metabolic disease, 28(4), 557-562. Springer Netherlands

The 625G>A variant of the short-chain acyl-CoA dehydrogenase (SCAD) gene is considered to confer susceptibility for developing ‘clinical SCAD deficiency’ and appears to be common in the general population. To determine the frequency of the 625G>A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5971ed3893cfa9d2e1ef37839e57179a
https://pure.amc.nl/en/publications/the-625ga-scad-gene-variant-is-common-but-not-associated-with-increased-c4carnitine-in-newborn-blood-spots(dcd4b92a-f832-4464-a47f-18c208f1af25).html