Results 171 to 180 of about 4,191 (204)
Some of the next articles are maybe not open access.
New Tools for Congenital Hyperinsulinism
Clinical Pediatrics, 2021N ...
Da Lozzo, Prisca +8 more
openaire +4 more sources
Genetics of Congenital Hyperinsulinism
Endocrine Pathology, 2004Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is manifested by severity ranging from extremely severe, life-threatening disease to very mild clinical symptoms, which may even be difficult to identify.
Jean-Christophe, Fournet +1 more
openaire +2 more sources
Congenital Hyperinsulinism: An Historical Perspective
Hormone Research in Paediatrics, 2022Congenital 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. It was the development of the insulin radioimmunoassay by Yalow and Berson a decade later that made it possible to demonstrate that this form of ...
Paul S. Thornton +2 more
openaire +2 more sources
Congenital Hyperinsulinism and Cardiomyopathy
Fetal and Pediatric Pathology, 2012We read with great interest the article by Bulbul et al [1] appearing in Volume 29, Issue 3, 2010.They presented a babywith hypertrophic cardiomyopathy and hyperinsulinemic hypoglycemia resistant tomedical treatment.Themutation analysis could not been performed in this case, however the disease clearly was due to an ATP-sensitivepotassium (KATP ...
Teoman, Akcay +3 more
openaire +2 more sources
A Newborn with Congenital Hyperinsulinism
Fetal and Pediatric Pathology, 2019Objective: Our aim was to describe the molecular alterations in the ABCC8 gene in a child with congenital hyperinsulinism (CHI). Methods: Genetic analysis of the ABCC8 gene of a newborn infant with congenial hyperinsulinism was obtained. Results: There were two mutations in the ABCC8 gene, c.4412delT, and c.3979G > A, indicating a compound heterozygous
Yiting, Du +3 more
openaire +2 more sources
[Focal congenital hyperinsulinism].
Orvosi hetilap, 2023In congenital hyperinsulinemic hypoglycemia - the most common cause of persistent hypoglycemia in infancy - a focal lesion can be identified in 50% of the cases. With appropriate medical care based upon early diagnosis, these patients can be cured by the resection of the lesion rendering unnecessary long time medical care, and avoiding serious brain ...
Zsuzsa, Tallós +8 more
openaire +1 more source
Ugeskrift for laeger, 2001
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium ...
H B, Christesen +2 more
openaire +1 more source
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium ...
H B, Christesen +2 more
openaire +1 more source
Rare forms of congenital hyperinsulinism
Seminars in Pediatric Surgery, 2011Rare forms of congenital hyperinsulinism (CHI) are caused by mutations in GLUD1 (encoding glutamate dehydrogenase), GCK (encoding glucokinase), HADH (encoding for L-3-hydroxyacyl-CoA dehydrogenase), SLC16A1 (encoding the monocarboxylat transporter 1), HNF4A (encoding hepatocyte nuclear factor 4α) or UCP2 (encoding mitochondrial uncoupling protein 2 ...
Jan, Marquard +4 more
openaire +2 more sources
Surgical treatment of congenital hyperinsulinism
Seminars in Pediatric Surgery, 2020A multidisciplinary approach to patients with congenital hyperinsulinism (HI) can distinguish focal from diffuse HI, localize focal lesions, and permit partial pancreatectomy with cure in almost all focal patients. Surgery does not cure diffuse disease but can help prevent severe hypoglycemia and brain damage. Surgery can be curative for insulinoma and
openaire +2 more sources