Results 111 to 120 of about 5,897 (164)

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

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

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity. [PDF]

Genome Med
Bennett JJ, Saint-Martin C, Neumann B, Männistö JME, Houghton JAL, Empting S, Johnson MB, Laver TW, Locke JM, Spurrier B, Wakeling MN, Banerjee I, Dastamani A, Demirbilek H, Mitchell J, Stange M, International Congenital Hyperinsulinism Consortium, Mohnike K, Arnoux JB, Owens NDL, Zenker M, Bellanné-Chantelot C, Flanagan SE.   +22 more
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

Response to Letter to the Editor From He et al: "Dasiglucagon in Children With Congenital Hyperinsulinism up to 1 Year of Age: Results From a Randomized Clinical Trial". [PDF]

J Clin Endocrinol Metab
De Leon DD, Banerjee I, Kummer S, Birch S, Bøge E, Ivkovic J, Kendall DM, Thornton PS.   +7 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

Proposed Screening for Congenital Hyperinsulinism in Newborns: Perspective from a Neonatal-Perinatal Medicine Group. [PDF]

J Clin Med
Kaiser JR, Amatya S, Burke RJ, Corr TE, Darwish N, Gandhi CK, Gasda A, Glass KM, Kresch MJ, Mahdally SM, McGarvey MT, Mola SJ, Murray YL, Nissly K, Santiago-Aponte NM, Valencia JC, Palmer TW.   +16 more
europepmc   +1 more source