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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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| Vydáno v: | JIMD Rep |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley & Sons, Inc.
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6718111/ https://ncbi.nlm.nih.gov/pubmed/31497481 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12074 |
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