Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
SUMF1
formylglycine generating enzyme
hydrops fetalis
lysosomal storage disorder
multiple sulfatase deficiency
preterm birth
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
received:
30
03
2019
revised:
19
07
2019
accepted:
24
07
2019
entrez:
10
9
2019
pubmed:
10
9
2019
medline:
10
9
2019
Statut:
epublish
Résumé
Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal storage disorder (LSD). Mutations in the
Identifiants
pubmed: 31497481
doi: 10.1002/jmd2.12074
pii: JMD212074
pmc: PMC6718111
doi:
Types de publication
Case Reports
Langues
eng
Pagination
48-52Déclaration de conflit d'intérêts
Lars Schlotawa, Thomas Dierks, Sophie Christoph, Eva Cloppenburg, Andreas Ohlenbusch, Korenke Cristoph, and Jutta Gärtner declare no conflict of interest.
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