Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing.
Sanfilippo's syndrome B
consanguineous marriage
mucopolysaccharidosis III
whole exome sequencing
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
21
10
2019
accepted:
13
02
2020
entrez:
8
2
2021
pubmed:
9
2
2021
medline:
9
2
2021
Statut:
ppublish
Résumé
Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is α-N acetylglucosaminidase. This enzyme is encoded by the
Identifiants
pubmed: 33552644
doi: 10.1055/s-0040-1708555
pii: 1900094
pmc: PMC7853908
doi:
Types de publication
Case Reports
Langues
eng
Pagination
74-76Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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