Results 161 to 170 of about 6,169 (207)

Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.

J Clin Endocrinol Metab
Boodhansingh KE, Lord K, Adzick NS, Bhatti T, Ganguly A, Stanley CA, De Leon DD.   +6 more
europepmc   +1 more source

Reassessing Pancreatectomy in Diffuse Congenital Hyperinsulinism: A Tale of 2 Brothers With Homozygous <i>KCNJ11</i> Variants. [PDF]

JCEM Case Rep
Rafique HA, Lucas-Herald AK, Shaikh MG.
europepmc   +1 more source

Diazoxide toxicity in congenital hyperinsulinism: A case report.

World J Clin Pediatr
Pajno R, Visconti C, Bucolo C, Guarneri MP, Del Barba P, Silvani P, Gregnanin M, Barera G.   +7 more
europepmc   +1 more source

Necrotizing enterocolitis following a single very low dose of octreotide in a patient with congenital hyperinsulinism: a case successfully managed with 18F-DOPA PET/CT-guided surgery. [PDF]

Clin Pediatr Endocrinol
Uehara T, Mizutani H, Hatabu N, Fukae T, Takizaki N, Izawa M, Hanakawa J, Usui H, Kitagawa N, Masue M, Muroya K.   +10 more
europepmc   +1 more source

Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing. [PDF]

Front Endocrinol (Lausanne)
Flanagan SE, Lazaridi IA, Männistö JME, Bennett JJ, Kalyon O, Johnson MB, Wakeling MN, Houghton JAL, Laver TW.   +8 more
europepmc   +1 more source

The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community. [PDF]

Clin Genet
Jain V, Radha V, Mohan V, Wakeling MN, Bennett JJ, Flanagan SE.   +5 more
europepmc   +1 more source

Case report: A novel HNF1A variant linked to gestational diabetes, congenital hyperinsulinism, and diazoxide hypersensitivity. [PDF]

Front Endocrinol (Lausanne)
Chandran S, Verma D, Rajadurai VS, Yap F.   +3 more
europepmc   +1 more source

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

J Clin Endocrinol Metab
Männistö JME, Hopkins JJ, Hewat TI, Nasser F, Burrage J, Dastamani A, Mirante A, Murphy N, Rzasa J, Kerkhof J, Relator R, Johnson MB, Laver TW, Weymouth L, Houghton JAL, Wakeling MN, Sadikovic B, Dempster EL, Flanagan SE.   +18 more
europepmc   +1 more source

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.

J Clin Endocrinol Metab
Velde CD, Molnes J, Berland S, Njølstad PR, Molven A.   +4 more
europepmc   +1 more source

The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease.

Horm Res Paediatr
Pasquini TLS, Lapidus D, De León DD, Thornton PS, Hood D, Breit J, Raskin J, Pasquini TLS.   +7 more
europepmc   +1 more source