An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib

Congenital glycosylation defects are autosomal recessive disorders clinically characterized with growth retardation, hypotonia and multisystemic involvement. Congenital glycosylation defect type Ib is due to deficiency in phosphomannose isomerase which converts fructose-6-phosphate into mannose-6-ph...

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Detalles Bibliográficos
Autores principales: Haznedar, Pınar, Eminoğlu, F. Tuba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2020
Materias:
Case Report / Olgu Sunumu
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096565/
https://www.ncbi.nlm.nih.gov/pubmed/32231455
http://dx.doi.org/10.5152/TurkPediatriArs.2018.18004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096565/
https://www.ncbi.nlm.nih.gov/pubmed/32231455
http://dx.doi.org/10.5152/TurkPediatriArs.2018.18004

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