Glycogen storage disease type 1a in the Ohio Amish.
gross motor delay
hepatomegaly
hypertriglyceridemia
hypoglycemia
oral aversion
quality of life
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Sep 2022
Sep 2022
Historique:
received:
08
04
2022
revised:
03
06
2022
accepted:
08
06
2022
entrez:
14
9
2022
pubmed:
15
9
2022
medline:
15
9
2022
Statut:
epublish
Résumé
Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and hepatic adenomas. We conducted a retrospective observational study on a cohort of Amish patients with GSD1a. A total of 15 patients cared for at a single center, with a median age of 9.9 years (range 0.25-24 years) were included. All patients shared the same founder variant in
Identifiants
pubmed: 36101819
doi: 10.1002/jmd2.12310
pii: JMD212310
pmc: PMC9458600
doi:
Types de publication
Journal Article
Langues
eng
Pagination
453-461Informations de copyright
© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Ethan M. Scott, Olivia K. Wenger, Jennifer Hershberger, Elizabeth Robinson, Kristina Colling, Miraides F. Brown, and Kadakkal Radhakrishnan declare that they have no conflict of interest.
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