Zobrazeno 1 - 10
of 170
pro vyhledávání: '"Hypoglycemia of infancy"'
Autor:
Norihiko Matsutani, Hiroto Furuta, Shohei Matsuno, Yoshimasa Oku, Shuhei Morita, Shinsuke Uraki, Asako Doi, Machi Furuta, Hiroshi Iwakura, Hiroyuki Ariyasu, Masahiro Nishi, Takashi Akamizu
Publikováno v:
Journal of Diabetes Investigation, Vol 11, Iss 2, Pp 333-336 (2020)
Abstract Activating mutations in the ABCC8 gene cause diabetes and inactivating mutations usually cause hyperinsulinemic hypoglycemia in infancy. Patients with hypoglycemia in infancy due to a heterozygous inactivating mutation have been reported to
Externí odkaz:
https://doaj.org/article/3e3eba8965fe4496bf9a7384912774ef
Autor:
Suresh Chandran, Victor Samuel Rajadurai, Wai Han Hoi, Sarah E. Flanagan, Khalid Hussain, Fabian Yap
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Maturity-onset diabetes of the young (MODY) classically describes dominantly inherited forms of monogenic diabetes diagnosed before 25 years of age due to pancreatic β-cell dysfunction. In contrast, mutations in certain MODY genes can also present w
Externí odkaz:
https://doaj.org/article/11cf112289294326af0b37861c02ba9d
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 77-81 (2018)
Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but n
Externí odkaz:
https://doaj.org/article/c1e75916eb074ee488686213944d2c89
Akademický článek
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Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism
Publikováno v:
Journal of the Formosan Medical Association, Vol 115, Iss 5, Pp 306-310 (2016)
Congenital hyperinsulinism (CHI) is a rare condition causing severe hypoglycemia in neonates and infants due to dysregulation of insulin secretion. This study aimed to review 20 years' experience in the management of Taiwanese children with CHI. Meth
Externí odkaz:
https://doaj.org/article/fc15b0fed7ea4cebb38378f61a532402
Autor:
Isabella Marinelli, Kathryn L. Corbin, Cara Schildmeyer, Nathan C. Law, Richard Bertram, Craig S. Nunemaker
Publikováno v:
Am J Physiol Endocrinol Metab
Insulin pulsatility is important to hepatic response in regulating blood glucose. Growing evidence suggests that insulin-secreting pancreatic β-cells can adapt to chronic disruptions of pulsatility to rescue this physiologically important behavior.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e222498fe9303e184525cd3434217ee
https://doi.org/10.1152/ajpendo.00482.2019
https://doi.org/10.1152/ajpendo.00482.2019
Autor:
Shinsuke Uraki, Asako Doi, Hiroto Furuta, Machi Furuta, Yoshimasa Oku, Hiroshi Iwakura, Shuhei Morita, Norihiko Matsutani, Hiroyuki Ariyasu, Masahiro Nishi, Shohei Matsuno, Takashi Akamizu
Publikováno v:
Journal of Diabetes Investigation, Vol 11, Iss 2, Pp 333-336 (2020)
Journal of Diabetes Investigation
Journal of Diabetes Investigation
Activating mutations in the ABCC8 gene cause diabetes and inactivating mutations usually cause hyperinsulinemic hypoglycemia in infancy. Patients with hypoglycemia in infancy due to a heterozygous inactivating mutation have been reported to occasiona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008c67ebc5c82a3fc7917041f25c8da6
https://doaj.org/article/3e3eba8965fe4496bf9a7384912774ef
https://doaj.org/article/3e3eba8965fe4496bf9a7384912774ef
Autor:
Prabudh Goel, Subhasis Roy Choudhury
Publikováno v:
Journal of Indian Association of Pediatric Surgeons, Vol 17, Iss 3, Pp 99-103 (2012)
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is relatively rare but one of the most important causes of severe neonatal hypoglycemia. Recognition of this entity becomes important due to the fact that the hypoglycemia is so severe and fr
Externí odkaz:
https://doaj.org/article/a927af94f4a348b49ca914ee20bf878e
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 77-81 (2018)
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 77-81 (2018)
Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d309f59187fc472edd337f3a2e0d12ad
https://pubmed.ncbi.nlm.nih.gov/30425915
https://pubmed.ncbi.nlm.nih.gov/30425915
Publikováno v:
Genes
Volume 6
Issue 2
Pages 206-215
Genes, Vol 6, Iss 2, Pp 206-215 (2015)
Volume 6
Issue 2
Pages 206-215
Genes, Vol 6, Iss 2, Pp 206-215 (2015)
The autosomal recessive form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is associated with mutations in either ABCC8 or KCNJ11 genes. In the present study, we describe the clinical features and results of genetic analysis of 13 Sau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1b8973b667543cd8dba49ef6bd285e3
http://europepmc.org/articles/PMC4488661
http://europepmc.org/articles/PMC4488661