Výsledky vyhledávání - "Sebastian Hirschfeld Adam"

Author response for 'First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century'

Autor: Wojciech Kozubski, Magdalena Badura-Stronka, Barbara Steinborn, Anna Winczewska-Wiktor, Anna Jakubiuk-Tomaszuk, Sebastian Hirschfeld Adam, Edyta Budzynska, Anita Piontek

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a698a78154e729316ee64f71540b30
https://doi.org/10.1111/cge.14079/v3/response1

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First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

Autor: Magdalena Badura-Stronka, Wojciech Kozubski, Anna Winczewska-Wiktor, Sebastian Hirschfeld Adam, Anita Piontek, Edyta Budzynska, Anna Jakubiuk-Tomaszuk, Barbara Steinborn

Publikováno v: Clinical geneticsREFERENCES. 101(2)

Background Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with childhood-onset chronic diarrhea and the classic triad of juvenile-onset c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3762dc707b7b849c92d10d4589e113b2
https://pubmed.ncbi.nlm.nih.gov/34689324

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