Results 71 to 80 of about 3,174 (161)

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +1 more source

Erythematous Papules and Plaques in an Infant Receiving Glucagon Therapy

JEADV Clinical Practice, Volume 4, Issue 5, Page 1263-1266, December 2025.
Sara Al Janahi, Alya Al‐Ali, Meera Al Adawi, Yusra S. Al Ali, Harish Bangalore   +4 more
wiley   +1 more source

Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review

Clinics and Practice, 2016
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated ...
Hobia Gole, Raymond Chuk, David Coman
doaj   +1 more source

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

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

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

Congenital Hyperinsulinism

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

Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series

Journal of Medical Case Reports
Background Congenital hyperinsulinism is a rare disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. One genetic subtype, hyperinsulinism–hyperammonemia syndrome, results from activating mutations in the GLUD1 ...
Miral M. Abdulghfar, Afaf Alsagheir, Ismail A. Abdullah, Raghad Alhuthil   +3 more
doaj   +1 more source

Congenital Hyperinsulinism [PDF]

, 2020
openaire   +2 more sources