A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive

We describe initial manifestations, approach to diagnosis, and treatment of a patient with congenital disorder of glycosylation type 1b (CDG 1b), previously managed as acetylcarnitine deficiency. A 9-year-old girl initially diagnosed with and treated for acetylcarnitine deficiency at an outside hosp...

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Detalles Bibliográficos
Autores principales: Rani, Swati, Sahai, Inderneel, Misra, Madhusmita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580457/
https://www.ncbi.nlm.nih.gov/pubmed/37908211
http://dx.doi.org/10.1210/jcemcr/luad109

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580457/
https://www.ncbi.nlm.nih.gov/pubmed/37908211
http://dx.doi.org/10.1210/jcemcr/luad109

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