Výsledky vyhledávání - "A M, Van Tuyll Van Serooskerke"

Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma

Autor: R J, Schimmel, A M, Van Tuyll Van Serooskerke, R S, Bladergroen, A M, Van Steensel, M, van Geel, S G M A, Pasmans, J, Frank

Publikováno v: Cellular and molecular biology (Noisy-le-Grand, France). 55(2)

Erythropoietic protoporphyria (EPP) is an autosomal dominant disorder that results from a deficiency of ferrochelatase (FECH), the last enzyme in the heme biosynthetic pathway. The characteristic clinical symptoms usually manifest in early childhood

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::262cc505fde697b139402dc2bec920b4
https://pubmed.ncbi.nlm.nih.gov/19656459

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Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications

Autor: A M, Van Tuyll Van Serooskerke, X, Schneider-Yin, R J, Schimmel, R S, Bladergroen, P, Poblete-Gutiérrez, J, Barman, M, van Geel, J, Frank, E I, Minder

Publikováno v: Cellular and molecular biology (Noisy-le-Grand, France). 55(2)

Variegate porphyria (VP), one of the acute hepatic porphyrias, results from an autosomal dominantly inherited deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in heme biosynthesis. Affected individuals can develop both cutaneous sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::445a6b82f3a8f493471883b9156bcba8
https://pubmed.ncbi.nlm.nih.gov/19656457

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