Results 101 to 110 of about 14,238 (246)
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
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2
Journal of Clinical Endocrinology and Metabolism, 2018 Context Persistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic ...
M. Vajravelu +6 more
semanticscholar +1 more source
El síndrome metabólico, una epidemia silente The metabolic syndrome, a silent epidemic
Revista Cubana de Investigaciones Biomédicas, 2009 En el presente artículo se hace referencia a la definición, etiopatogenia, diagnóstico y tratamiento del síndrome metabólico, uno de los principales factores de riesgo de la aterosclerosis, caracterizado por alteraciones metabólicas que se expresan en un
José A Castillo Herrera
doaj
Hormone Research in Paediatrics, 2018 Background: Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. Objective: We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen ...
Gibson Ce +11 more
semanticscholar +1 more source
Genetic characteristics of patients with congenital hyperinsulinism
Current opinion in pediatrics, 2018 Purpose of review Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children. Early and appropriate recognition and treatment of hypoglycemia is vital to minimize neurocognitive impairment.
M. Vajravelu, Diva D. De León
semanticscholar +1 more source
Pediatric Pulmonology, Volume 59, Issue 12, Page 3777-3782, December 2024.
Delphine Micaelli +8 more
wiley +1 more source
Congenital Hyperinsulinism: Diagnosis and Treatment Update
Journal of Clinical Research in Pediatric Endocrinology, 2017 Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L).
H. Demirbilek, K. Hussain
semanticscholar +1 more source
Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome
The Turkish Journal of Pediatrics, 2016 Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare disorder presented with recurrent hypoglycemia and elevated serum ammonia, which may lead to development delays, permanent neurologic damages, if it remains underdiagnosed.
Sibel Aka +4 more
doaj +1 more source
Human Molecular Genetics, 2017 Congenital hypopituitarism (CH) is characterized by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders.
D. Giri +8 more
semanticscholar +1 more source