Zobrazeno 1 - 3
of 3
pro vyhledávání: '"C. S. van Woerden"'
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
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
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
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