Results 181 to 190 of about 6,169 (207)
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[Congenital hyperinsulinism].

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

Rare forms of congenital hyperinsulinism

Seminars in Pediatric Surgery, 2011
Rare 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, 2020
A 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

Congenital Hyperinsulinism (CHI)

2019
The aim of this chapter is to highlight a rare endocrine condition (Congenital Hyperinsulinism, CHI), which can cause low blood glucose levels leading to permanent brain injury. Many Paediatric Nurses are unfamiliar with this condition. CHI is caused by unregulated insulin secretion from the pancreas and typically presents in the newborn period, but it
Claire Gilbert   +3 more
openaire   +1 more source

Insights in Congenital Hyperinsulinism

2007
Congenital hyperinsulinism is characterized by the unregulated secretion of insulin from pancreatic Beta-cells. The inappropriate insulin secretion causes severe and persistent hypoglycaemia, which is a potent cause of brain damage if inappropriately managed.
openaire   +2 more sources

Congenital Hyperinsulinism

2019
Indraneel Banerjee   +3 more
openaire   +2 more sources

Congenital Hyperinsulinism

2022
Jean-Baptiste Arnoux   +3 more
openaire   +1 more source

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

Nature Genetics, 2022
Matthew N Wakeling   +2 more
exaly  

Congenital Hyperinsulinism

2009
Nils Peters   +199 more
openaire   +1 more source

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