Výsledky vyhledávání - "Hyperinsulinemic hypoglycemia in infancy"

Akademický článek

Carbamazepine promotes surface expression of mutant Kir6.2-A28V ATP-sensitive potassium channels by modulating Golgi retention and autophagy

Autor: Lin, Ching-Han ^{1, ‡}, Lin, Yu-Chi ^{2, ‡}, Yang, Shi-Bing ^{3, ∗}, Chen, Pei-Chun ^{1, 4, ∗}

Publikováno v: In Journal of Biological Chemistry May 2022 298(5)

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Akademický článek

Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing

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

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Akademický článek

A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family

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

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Akademický článek

Hyperinsulinism-hyperammonemia syndrome in an infant with seizures

Autor: Strajnar A, Tansek MZ, Podkrajsek KT, Battelino T, Groselj U

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

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Akademický článek

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Akademický článek

Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism

Autor: Lee, Cheng-Ting ^a, Liu, Shih-Yao ^a, Tung, Yi-Ching ^a, Chiu, Pao-Chin ^b, Wu, Mu-Zon ^c, Tsai, Wen-Yu ^{a, ∗}

Publikováno v: In Journal of the Formosan Medical Association May 2016 115(5):306-310

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Akademický článek

Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism

Autor: Cheng-Ting Lee, Shih-Yao Liu, Yi-Ching Tung, Pao-Chin Chiu, Mu-Zon Wu, Wen-Yu Tsai

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

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Akademický článek

Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy

Autor: Al-Shanafey, Saud ^⁎, AlKhudhur, Hussain

Publikováno v: In Journal of Pediatric Surgery May 2012 47(5):895-897

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Chronic stimulation induces adaptive potassium channel activity that restores calcium oscillations in pancreatic islets in vitro

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

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Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young‐onset diabetes with exome sequencing

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

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

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