Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

We report two unrelated patients with infantile onset leukoencephalopathy with vanishing white matter (VWM) and hyperinsulinaemic hypoglycaemia. To our knowledge, this association has not been described previously. Both patients had compound heterozygous pathogenic variants in EIF2B4 detected on exo...

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Detalles Bibliográficos
Autores principales: Bursle, Carolyn, Yiu, Eppie M., Yeung, Alison, Freeman, Jeremy L., Stutterd, Chloe, Leventer, Richard J., Vanderver, Adeline, Yaplito‐Lee, Joy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012737/
https://www.ncbi.nlm.nih.gov/pubmed/32071834
http://dx.doi.org/10.1002/jmd2.12081

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012737/
https://www.ncbi.nlm.nih.gov/pubmed/32071834
http://dx.doi.org/10.1002/jmd2.12081

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