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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Kare Publishing
2020
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| 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 |