A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report

BACKGROUND: Hyperinsulinism-hyperammonemia syndrome is the second most common cause of congenital hyperinsulinism and is easily treated with diazoxide; however, the symptoms in our patient were very difficult to control with typical medical therapy. To the best of our knowledge, neither our patient’...

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Detalles Bibliográficos
Autores principales: Odom, John, Gieron-Korthals, Maria, Shulman, Dorothy, Newkirk, Patricia, Prijoles, Eloise, Sanchez-Valle, Amarilis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738771/
https://www.ncbi.nlm.nih.gov/pubmed/26839063
http://dx.doi.org/10.1186/s13256-016-0811-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738771/
https://www.ncbi.nlm.nih.gov/pubmed/26839063
http://dx.doi.org/10.1186/s13256-016-0811-0

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