Výsledky vyhledávání - "S. U. Brendel"

Mevalonate kinase assay using DEAE‐cellulose column chromatography for first‐trimester prenatal diagnosis and complementation analysis in mevalonic aciduria

Autor: Georg F. Hoffmann, S. R. Scharfschwerdt, Yoon S. Shin, K. M. Gibson, S. U. Brendel, I. M. Speidel

Publikováno v: Journal of Inherited Metabolic Disease. 15:738-746

Mevalonic aciduria due to mevalonate kinase deficiency, an inherited defect of cholesterol biosynthesis, has presented with clinical variability in 10 patients from 7 families. We sought to define a genetic basis for this heterogeneity by determining

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fec305b374f4818df178942bd8b53de
https://doi.org/10.1007/bf01800016

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Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency

Autor: R K Keller, Gibson Km, Wiesmann Un, Hoffmann Gf, S. U. Brendel

Publikováno v: Pediatric research. 41(4 Pt 1)

In a search for the pathophysiologic mechanisms, we estimated isoprenoid synthesis and concentration, cellular growth, and the activity of the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency (MKD), a severe multisy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875649ffb2c0c391535719a4eea5a2ef
https://pubmed.ncbi.nlm.nih.gov/9098857

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