Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations

BACKGROUND: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome. Patients present with HA and leucine-sensitive hypoglycaemia. GDH is regulated by another intra-mitochondrial...

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Detalles Bibliográficos
Autores principales: Kapoor, Ritika R, Flanagan, Sarah E, Fulton, Piers, Chakrapani, Anupam, Chadefaux, Bernadette, Ben-Omran, Tawfeg, Banerjee, Indraneel, Shield, Julian P, Ellard, Sian, Hussain, Khalid
Formato: Texto
Lenguaje:English
Publicado: BioScientifica 2009
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761810/
https://www.ncbi.nlm.nih.gov/pubmed/19690084
http://dx.doi.org/10.1530/EJE-09-0615

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