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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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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7012737/ https://ncbi.nlm.nih.gov/pubmed/32071834 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12081 |
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