Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review

Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review

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 combination of developmentally retarded psychomotoric func...

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Main Authors: Michael P. Schittkowski (Author), Sabine Naxer (Author), Mohamed Elabbasy (Author), Leonie Herholz (Author), Vivian Breitling (Author), Alan Finglas (Author), Jutta Gärtner (Author), Lars Schlotawa (Author)
Format: Book
Published: MDPI AG, 2023-03-01T00:00:00Z.
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3rd Floor Main Library

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