Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the
hydrops fetalis
nonimmune hydrops fetalis
severe hydrops fetalis
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
08
05
2021
accepted:
19
08
2021
entrez:
20
10
2021
pubmed:
21
10
2021
medline:
14
1
2022
Statut:
epublish
Résumé
Nonimmune hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Lysosomal storage diseases have been reported in up to 5%-16% of nonimmune hydrops fetalis pregnancies. Infantile free sialic acid storage disease (ISSD) (OMIM #269920) is a severe form of autosomal recessive sialic acid storage disease. ISSD is caused by mutations in
Identifiants
pubmed: 34667062
pii: mcs.a006106
doi: 10.1101/mcs.a006106
pmc: PMC8559617
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2021 Hasnain et al.; Published by Cold Spring Harbor Laboratory Press.
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