Results 101 to 110 of about 245,105 (180)

Diazoxide-Responsive Congenital Hyperinsulinism in a Preterm Infant With Homozygous <i>ABCC8</i> Mutation: A Case Report. [PDF]

Case Rep Endocrinol
Kansakar P, Gurung G, Bhandari S, Shrestha K, G C B, Thapa S, Acharya R.   +6 more
europepmc   +1 more source

Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report

Congenital hyperinsulinism (CHI) represents a complex group of genetic disorders causing inappropriate insulin secretion. We report the first case of severe CHI caused by a novel combination of HADH and GHSR mutations, leading to an unusually severe ...
Rachid Abilkassem, Abdelilah Radi, Azzeddine Laaraje, Aomar Agadr   +3 more
core   +1 more source

[Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children]

, 2011
Contains fulltext : 96534.pdf (Publisher’s version ) (Closed access)OBJECTIVE: To describe the clinical features and relevant genetic mutations in 22 children with congenital hyperinsulinism in the north-east Netherlands.
Bikker, H., Verheul, J.C., Bakker-van Waarde, W.M., Noordam, C., Ris-Stalpers, C.   +4 more
core  

A Novel <i>ABCC8</i> Variant in an Adult with Hyperinsulinemic Hypoglycemia Suggestive of Congenital Hyperinsulinism: A Case Report. [PDF]

Reports (MDPI)
Rabani H, Rosenblat I, Osman K, Shalata A, Saiegh L.   +4 more
europepmc   +1 more source

Case Report: Pasireotide treatment in neonatal congenital hyperinsulinism due to a homozygous <i>ABCC8</i> mutation. [PDF]

Front Endocrinol (Lausanne)
Kurz C, Roeper M, Friesl L, Mayatepek E, Meissner T, Kummer S, Hoermann H, Welters A.   +7 more
europepmc   +1 more source

Congenital Hyperinsulinism With Paternally Inherited <i>ABCC8</i> Variants: A Single Center Experience Over a Decade in Singapore. [PDF]

J ASEAN Fed Endocr Soc
Chua C, Chan D, Koh AL, Chandran S, Yap F.   +4 more
europepmc   +1 more source

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA. [PDF]

EBioMedicine
Bennett JJ, Laver TW, Männistö JME, Houghton JAL, De Franco E, Kalyon O, Wright S, Johnson AM, De Leon DD, Globa E, Kummer S, Banerjee I, Dastamani A, International Congenital Hyperinsulinism Consortium, Wakeling MN, Johnson MB, Flanagan SE.   +16 more
europepmc   +2 more sources

Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism. [PDF]

J Endocr Soc
Männistö JME, Houghton JAL, Bennett JJ, Keskinen P, Tuomi T, Ruuskanen H, Viikari LA, Jokiniitty A, Lähde J, Raivo J, Otonkoski T, Huopio H, Flanagan SE.   +12 more
europepmc   +1 more source

Congenital hyperinsulinism : contributions of chemistry, therapeutic response, genetics and imaging.

editorial reviewedCongenital hyperinsulinism is the most common cause of recurrent hypoglycemia in newborns and children. Early diagnosis and rapid management are essential to avoid hypoglycaemic brain injury and later neurological complications ...
Parent, Anne-Simone, KASCHTEN, Sophie, FUDVOYE, Julie, Vandendaele, Catherine   +3 more
core  

A case of congenital hyperinsulinism with <i>ABCC8</i> variants treated with octreotide long-acting release for four years. [PDF]

Clin Pediatr Endocrinol
Umeki I, Nakagawa T, Miura A, Kawashima S, Shima H, Sogi C, Suzuki D, Ito M, Ishibashi N, Suzuki S, Takahashi T, Yorifuji T, Kikuchi A, Kanno J.   +13 more
europepmc   +1 more source