Hyperinsulinism-Hypoglycemia-Hyperammonemia Syndrome: A New GLUD1 Mutation
The hyperinsulinism hypoglyemia hyperammonemia syndrome (SHI/HA) is the second most common syndrome of congenital hyperinsulinism. The gain of function mutations of the GLUD-1 gene that encodes for the mitochondrial enzyme glutamate dehydrogenase causes a form of hyperinsulinism associated with hype...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2013
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/25616
- Acceso en línea:
- https://doi.org/10.1177/2326409813511871
https://repository.urosario.edu.co/handle/10336/25616
- Palabra clave:
- Hyperinsulinism
Hypoglycemia
Hyperammonemia
GLUD1 Mutation
- Rights
- License
- http://purl.org/coar/access_right/c_14cb