Results 91 to 100 of about 245,105 (180)

Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

Orphanet Journal of Rare Diseases, 2022
Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton   +7 more
doaj   +1 more source

Long-Term Follow-Up of Children With Congenital Hyperinsulinism on Octreotide Therapy

, 2014
Context: Octreotide, a somatostatin analog, is commonly used in diazoxide unresponsive congenital hyperinsulinism (CHI) patients as a second-line ...
Demirbilek, HÜSEYİN, Shah, Pratik, Flanagan, Sarah E., Hinchey, Louise, Hussain, Khalid, Arya, Ved Bhushan, Ellard, Sian   +6 more
core   +1 more source

Patient-derived induced pluripotent stem cells for precision modelling of monogenic beta cell disorders

Frontiers in Endocrinology
Over the past several years, research and technologies involving patient-derived induced pluripotent stem cells (iPSCs) have rapidly advanced, enabling the study of various disease pathologies, including rare pathologies like monogenic disorders of beta ...
Lily Deng, Mansa Krishnamurthy
doaj   +1 more source

A rare case of congenital hyperinsulinism in a child — when morphology determines treatment tactics

Лечащий Врач
Background. A clinical case of an encapsulated focal form of congenital hyperinsulinism in a young child is presented. A comprehensive examination was performed, including molecular genetic analysis, radionuclide diagnostics (PET-CT with 18F-DOPA) and ...
L. R. Klimshina, I. L. Nikitina, D. V. Ryzhkova, A. A. Perminova, A. A. Sukhotskaya, A. O. Plaksina, L. B. Mitrofanova   +6 more
doaj   +1 more source

Seizure due to somatostatin analog discontinuation in a case diagnosed as congenital hyperinsulinism novel mutation.

, 2012
The most common reason for refractory hypoglycemia in newborns is congenital hyperinsulinism. We report a girl with congenital hyperinsulinism due to novel homozygous mutation (c.2041-25 G>A; aberrant splicing mutation) in the ABCC8 gene encoding SUR1 ...
Cetinkaya, Semra, Baş, VEYSEL NİJAT, Cetinkaya, S, Cavuşoğlu, YH, Zenciroğlu, A, Zenciroglu, Aysegul, Ozkan, M, Aycan, Z, Aycan, Zehra, ÇAVUŞOĞLU, YUSUF HAKAN, Ozkan, Mehpare   +10 more
core   +1 more source

Congenital Hyperinsulinism [PDF]

, 2020
openaire   +2 more sources

Congenital Hyperinsulinism

Seminars in pediatric surgery, 2011
Xinhua Xiao, Si Che
openaire   +4 more sources

Structural basis of insulin receptor antagonism by bivalent site 1-site 2 ligands S961 and Ins-AC-S2

Nature Communications
Congenital hyperinsulinism is a rare genetic disease characterized by overproduction of insulin. One class of potential treatments is insulin receptor antagonists like S961 and Ins-AC-S2, which comprise segments for binding each of the two insulin ...
Amber Vogel, Alan Blakely, Yuankun Dao, Nai-Pin Lin, Danny Chou, Christopher P. Hill   +5 more
doaj   +1 more source

[Clinical practice guidelines "Congenital hyperinsulinism"]. [PDF]

Probl Endokrinol (Mosk)
Bolmasova AV, Yanar EA, Nikitina IL, Kolodkina AA, Mikhalina SD, Peterkova VA, Bezlepkina OB.   +6 more
europepmc   +1 more source

Paroxysmal awakenings and seizures in congenital hyperinsulinism: a late diagnosis

, 2016
We describe the case of a 16-month-old girl with congenital hyperinsulinism diagnosed at the age of 11 months, after a history of a single convulsive seizure at 4 months of age, followed by frequent unexplained paroxysmal events related to sleep.
Elena Faleschini, Marco Carrozzi, Caterina Zanus, Paola Costa, Gianluca Tornese   +4 more
core