Results 31 to 40 of about 245,105 (180)

Congenital Hyperinsulinism

Pediatric Annals, 2017
Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy.
Elena, Minakova, Alison, Chu
  +5 more sources

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Shield, JPH, Kapoor, RR, Hussain, K., Rubio-Cabezas, O., Kapoor, R. R., Banerjee, I, Sianhanidou, T, Siahanidou, T., Flanagan, SE, Akcay, T, Akcay, T., Cody, D., Siahanidou, T, Hussain, K, Ellard, S., Mali, G, Cody, D, Shield, JP, Shield, J. P. H., Rubio-Cabezas, O, Mali, G., Schwahn, B., Flanagan, S. E., Murphy, N, Murphy, N., Banerjee, I., Ellard, S, Schwahn, B   +27 more
core   +1 more source

Congenital hyperinsulinism due to mutations in HNF1A

, 2020
Congenital hyperinsulinism is a rare but significant cause of severe and persistent hypoglycaemia in infancy. Although a biphasic phenotype of congenital hyperinsulinism in infancy followed by Maturity-Onset Diabetes of the Young (MODY) in later life has
Colclough, Kevin
core   +1 more source

Congenital hyperinsulinism with hyperammonaemia

BMJ Case Reports, 2010
Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia.
Alex, Pschibul, Jörg, Müller, Hubert, Fahnenstich   +2 more
openaire   +3 more sources

Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

Orphanet Journal of Rare Diseases, 2021
Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI.
Wei Zhang, Yan-Mei Sang
doaj   +1 more source

Neonatal congenital hyperinsulinism in Indonesia

Journal of Pediatric Surgery Case Reports, 2021
Introduction: Congenital hyperinsulinism (CHI) is resulted from dysregulated insulin secretion from hyperplastic and hyperactive but apparently normally structured β-cells islet.
I.Made Arimbawa, I.Wayan Eka Satriawibawa, Kadek Deddy Ariyanta, I.Made Darmajaya, Pande Putu Yuli Anandasari, Luh Putu Iin Indrayani Maker   +5 more
doaj   +1 more source

Genotype-phenotype association in children with congenital hyperinsulinism

, 2012
Genotype-phenotype association in children with congenital ...
Brusgaard, Klaus, Peterkova, V., Petraykina, E., Christesen, Henrik Thybo, Gurevich, L., Melikyan, M., Averyanova, Y., Volkov, I   +7 more
core   +3 more sources

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation [PDF]

, 2018
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases.
Işık, E., Hussain, K., Jayne A L Houghton, Demirbilek, Hüseyin, Khalid Hussain, Demirbilek, H., Houghton, Jayne A., Emregül Işık, Flanagan, Sarah E., Jayne A. Houghton, Sian Ellard, Isik, Emregul, Flanagan, S. E., Sarah E. Flanagan, Hussain, Khalid, Hüseyin Demirbilek, Houghton, J. A. L., Işık, Emregül, Ellard, Sian   +18 more
core   +1 more source

Siblings With Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism

, 2023
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in early infancy. Mutations in the gene for heterozygous hepatocyte nuclear transcription factor 4-alpha () account for approximately 5% of cases and are inherited in an ...
Eimicke, Toni, Swartz, Jonathan, Wolschendorf, Robin   +2 more
core   +1 more source

Characterization of the zebrafish as a model of ATP-sensitive potassium channel hyperinsulinism

BMJ Open Diabetes Research & Care
Introduction Congenital hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants. Current models to study the most common and severe form of HI resulting from inactivating mutations in the ATP-sensitive potassium channel (KATP) are
Diva D De León, Christine A Juliana, Joshua Benjet   +2 more
doaj   +1 more source