Síndrome de hiperinsulinismo-hiperamoniemia y epilepsia mioclónica grave de la infancia
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical)
Reference16 articles.
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2. Hyperinsulinism and hiperammonemia syndrome: report of twelve unrelated patients;De Lonlay;Pediatr Res.,2001
3. Novel missense mutations, in the glutamate dehydrogenase gene in the congenital hyperinsulinism–hyperammonaemia syndrome;Miki;J Pediatr.,2000
4. Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene;Stanley;Diabetes.,2000
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1. Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome;Orphanet Journal of Rare Diseases;2022-06-25
2. Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature;Journal of Pediatric Endocrinology and Metabolism;2016-01-01
3. Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family;Journal of Pediatric Endocrinology and Metabolism;2015-01-01
4. Metabolic Causes of Epileptic Encephalopathy;Epilepsy Research and Treatment;2013-05-22
5. Inherited pediatric metabolic epilepsies;Expert Opinion on Orphan Drugs;2013-01-08
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