Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (
case report
monogenic diabetes
sulfonylurea
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
23 Feb 2021
23 Feb 2021
Historique:
received:
06
08
2020
accepted:
26
09
2020
pubmed:
14
11
2020
medline:
12
10
2021
entrez:
13
11
2020
Statut:
epublish
Résumé
Neonatal diabetes mellitus (NDM) is a rare monogenic diabetes form, occurring mainly from ATP-binding cassette subfamily C member 8 ( We report the case of a newborn with NDM and a heterozygous This case demonstrates the variable phenotypic presentation of diabetes due to a novel
Identifiants
pubmed: 33185579
doi: 10.1515/jpem-2020-0462
pii: /j/jpem.ahead-of-print/jpem-2020-0462/jpem-2020-0462.xml
doi:
Substances chimiques
ABCC8 protein, human
0
Hypoglycemic Agents
0
Sulfonylurea Receptors
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
273-276Informations de copyright
© 2020 Walter de Gruyter GmbH, Berlin/Boston.
Références
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