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pro vyhledávání: '"multiple sulfatase deficiency (MS)"'
Autor:
Michael P. Schittkowski, Sabine Naxer, Mohamed Elabbasy, Leonie Herholz, Vivian Breitling, Alan Finglas, Jutta Gärtner, Lars Schlotawa
Publikováno v:
Children, Vol 10, Iss 3, p 595 (2023)
Multiple sulfatase deficiency (MSD) is an extremely rare autosomal recessively inherited disease with a prevalence of 1:500.000 caused by mutations on the sulfatase-modifying-Factor 1 gene (SUMF1). MSD is most specifically characterised by a combinat
Externí odkaz:
https://doaj.org/article/37a4e7b9d78944429ab4ced7f6e2610d
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