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

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

Abstract 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 newl...

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Bibliographic Details
Main Authors: Lars Schlotawa, Thomas Dierks, Sophie Christoph, Eva Cloppenburg, Andreas Ohlenbusch, G. Christoph Korenke, Jutta Gärtner
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:JIMD Reports
Subjects:
formylglycine generating enzyme
hydrops fetalis
lysosomal storage disorder
multiple sulfatase deficiency
preterm birth
SUMF1
Online Access:https://doi.org/10.1002/jmd2.12074

Internet

https://doi.org/10.1002/jmd2.12074

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