Results 241 to 250 of about 20,887 (300)

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes. [PDF]

open access: yesFront Endocrinol (Lausanne)
Del Medico G   +8 more
europepmc   +1 more source

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.

open access: yesJ Clin Endocrinol Metab
Männistö JME   +18 more
europepmc   +1 more source

Congenital Hyperinsulinism: An Historical Perspective

Hormone Research in Paediatrics, 2022
Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in neonates, infants, and children. Since the first case descriptions in the 1950s, the field has advanced significantly.
P. Thornton   +2 more
semanticscholar   +1 more source

Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2021
Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia in the neonatal period and early childhood. Mutations in 16
D. Giri, Katherine Hawton, S. Senniappan
semanticscholar   +1 more source

THE ENCEPHALOPATHY OF HYPERINSULINISM

Annals of Internal Medicine, 1949
1. A case of severe hyperinsulinism in a juvenile diabetic is reported in which unconsciousness was produced for over 72 hours. 2. Emphasis is placed on the unreliability of the urine as an initial diagnostic indicator in coma seen during the course of extremely labile diabetes mellitus. 3. Globin insulin, in large doses, is shown to have a cumulative,
S. K. Fineberg, Alexander Altschul
openaire   +4 more sources

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