Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

Multiple sulfatase deficiency (MSD) is an ultra‐rare lysosomal storage disorder (LSD). Mutations in the SUMF1 gene encoding the formylglycine generating enzyme (FGE) result in an unstable FGE protein with reduced enzymatic activity, thereby affecting the posttranslational activation of newly synthes...

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Detalles Bibliográficos
Autores principales: Schlotawa, Lars, Dierks, Thomas, Christoph, Sophie, Cloppenburg, Eva, Ohlenbusch, Andreas, Korenke, G. Christoph, Gärtner, Jutta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718111/
https://www.ncbi.nlm.nih.gov/pubmed/31497481
http://dx.doi.org/10.1002/jmd2.12074

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718111/
https://www.ncbi.nlm.nih.gov/pubmed/31497481
http://dx.doi.org/10.1002/jmd2.12074

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