Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2004 1
2009 2
2010 3
2011 2
2012 2
2013 1
2016 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
The hyperinsulinism/hyperammonemia syndrome.
Palladino AA, Stanley CA. Palladino AA, et al. Rev Endocr Metab Disord. 2010 Sep;11(3):171-8. doi: 10.1007/s11154-010-9146-0. Rev Endocr Metab Disord. 2010. PMID: 20936362 Review.
Persistent hyperinsulinaemic hypoglycaemia.
de Lonlay P, Touati G, Robert JJ, Saudubray JM. de Lonlay P, et al. Semin Neonatol. 2002 Feb;7(1):95-100. doi: 10.1053/siny.2001.0090. Semin Neonatol. 2002. PMID: 12069542 Review.
Only diazoxide-sensitive neonates should be orientated to transient hyperinsulinism or hyperinsulinism-hyperammonemia syndrome. Focal CI is characterized by a sporadic somatic islet-cell hyperplasia. ...
Only diazoxide-sensitive neonates should be orientated to transient hyperinsulinism or hyperinsulinism-hyperammonemia syndr …
Intractable absence seizures in hyperinsulinism-hyperammonemia syndrome.
Nakano K, Kobayashi K, Okano Y, Aso K, Ohtsuka Y. Nakano K, et al. Pediatr Neurol. 2012 Aug;47(2):119-22. doi: 10.1016/j.pediatrneurol.2012.04.019. Pediatr Neurol. 2012. PMID: 22759688 Review.
This case illustrates the complex relationship between seizures and hypoglycemia in hyperinsulinism-hyperammonemia syndrome that can create diagnostic difficulties. The possibility of hyperinsulinism-hyperammonemia syndrome should be cons …
This case illustrates the complex relationship between seizures and hypoglycemia in hyperinsulinism-hyperammonemia syndrome …
Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism.
Rosenfeld E, De León DD. Rosenfeld E, et al. Curr Opin Pediatr. 2023 Aug 1;35(4):486-493. doi: 10.1097/MOP.0000000000001243. Epub 2023 Mar 28. Curr Opin Pediatr. 2023. PMID: 36974442 Review.
Inactivating mutations in SLC25A36 have been identified in children with features of the hyperinsulinism hyperammonemia syndrome. Low-level mosaic mutations in known HI genes have been detected in cases of 'genetic testing negative' HI. ...
Inactivating mutations in SLC25A36 have been identified in children with features of the hyperinsulinism hyperammonemia syn …
Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism.
Stanley CA. Stanley CA. Mol Genet Metab. 2004 Apr;81 Suppl 1:S45-51. doi: 10.1016/j.ymgme.2003.10.013. Mol Genet Metab. 2004. PMID: 15050973 Review.
The second most common form of congenital hyperinsulinism, the hyperinsulinism/hyperammonemia syndrome (HI/HA), is associated with dominantly expressed missense mutations of the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH). ...
The second most common form of congenital hyperinsulinism, the hyperinsulinism/hyperammonemia syndrome (HI/HA), is asso …
Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.
Stanley CA. Stanley CA. Neurochem Int. 2011 Sep;59(4):465-72. doi: 10.1016/j.neuint.2010.11.017. Epub 2010 Dec 2. Neurochem Int. 2011. PMID: 21130127 Free PMC article. Review.
Glutamate dehydrogenase (GDH) has recently been shown to be involved in two genetic disorders of hyperinsulinemic hypoglycemia in children. These include the hyperinsulinism/hyperammonemia syndrome caused by dominant activating mutations of GLUD1 which interf …
Glutamate dehydrogenase (GDH) has recently been shown to be involved in two genetic disorders of hyperinsulinemic hypoglycemia in children. …
12 results