Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiency.
GPD1 gene
Glycerol‐3‐phosphate dehydrogenase 1 deficiency
fenofibrate
hepatic steatosis
hepatomegaly
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
27
02
2020
revised:
03
04
2020
accepted:
11
04
2020
entrez:
21
7
2020
pubmed:
21
7
2020
medline:
21
7
2020
Statut:
epublish
Résumé
Glycerol-3-phosphate dehydrogenase 1 deficiency is a rare autosomal recessive disorder caused by mutations in the
Identifiants
pubmed: 32685347
doi: 10.1002/jmd2.12125
pii: JMD212125
pmc: PMC7358666
doi:
Types de publication
Case Reports
Langues
eng
Pagination
25-31Informations de copyright
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
L. M., V. R., C. M., A. L., D. C., G. B. V., G. L., A. S., and G. M. declare that they have no conflict of interest.
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