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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Detalles Bibliográficos
Autores principales: Schittkowski, Michael P., Naxer, Sabine, Elabbasy, Mohamed, Herholz, Leonie, Breitling, Vivian, Finglas, Alan, Gärtner, Jutta, Schlotawa, Lars
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047279/
https://www.ncbi.nlm.nih.gov/pubmed/36980153
http://dx.doi.org/10.3390/children10030595

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047279/
https://www.ncbi.nlm.nih.gov/pubmed/36980153
http://dx.doi.org/10.3390/children10030595

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