Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency

Glycerol‐3‐phosphate dehydrogenase 1 deficiency is a rare autosomal recessive disorder caused by mutations in the GPD1 gene (GPD1; OMIM*138420). Very few cases are reported in literature. It usually manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, steatosis, and fibrosis...

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Autores principales: Matarazzo, Lorenza, Ragnoni, Valentina, Malaventura, Cristina, Leon, Alberta, Colavito, Davide, Vigna, Giovanni Battista, Lanza, Giovanni, Sonzogni, Aurelio, Maggiore, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358666/
https://www.ncbi.nlm.nih.gov/pubmed/32685347
http://dx.doi.org/10.1002/jmd2.12125

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