Results 81 to 90 of about 7,729 (170)

Paired-Like Homeobox 2B (PHOX2B) Mutation and the Hidden Endocrine Puzzle: Hyperinsulinism in Congenital Central Hypoventilation Syndrome. [PDF]

Cureus
Sabsabee M, Mustafa M.
europepmc   +1 more source

Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.

J Clin Endocrinol Metab
George AM, Viswanathan A, Sussman JH, Hathaway ER, Casalnova A, Nesbitt S, Boodhansingh KE, Stewart NM, McKnight HJ, Lord K, De León DD, Stanley CA, Adzick NS, Ganguly A, Kalish JM.   +14 more
europepmc   +1 more source

Co-occurrence of Loss-of-Function GCK and ABCC8 Variants in a Pedigree With a Spectrum of Dysglycemia. [PDF]

Diabetes
Saint-Martin C, ElSheikh A, Jacqueminet S, Arnoux JB, Ciangura C, Bellanné-Chantelot C, Shyng SL.   +6 more
europepmc   +1 more source

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism. [PDF]

Genet Res (Camb)
Begemann M, Boy JAT, Kraft F, Vossschulte H, Barthlen W, Kummer S, Orlikowsky T, Torosoglu A, Eggermann T, Kurth I, Elbracht M, Pappa A.   +11 more
europepmc   +1 more source

Natural History of the Hyperinsulinism/Hyperammonemia Syndrome: A Retrospective Review Incorporating Patient-Centered Data.

Horm Res Paediatr
Rosenfeld E, Taylor O, Mitteer LM, Boodhansingh KE, Pasquini TLS, Raskin J, Rafferty D, Thornton PS, De Leon DD.   +8 more
europepmc   +1 more source

Congenital Hyperinsulinism in Neonates: Diagnostic Challenges and Management in Two Cases With KCNJ11 and ABCC8 Mutation. [PDF]

Cureus
Figuccia A, Vitaliti G, Avanti C, Di Bella L, Vitaliti SM.   +4 more
europepmc   +1 more source

From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review. [PDF]

Front Pharmacol
Wong T, Chan D, Chua C, Cher W, Lim S, Chandran S, Yap F.   +6 more
europepmc   +1 more source

Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.

J Clin Endocrinol Metab
Juliana CA, Li C, Chai J, Boodhansingh KE, Mitteer LM, Kalish JM, Bhatti TR, Adzick NS, De Leon DD.   +8 more
europepmc   +1 more source

Rare Causes of Hypoglycemia-Lessons from Case Reports. [PDF]

JCEM Case Rep
Munir A.
europepmc   +1 more source

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic <i>CHD7</i> variant. [PDF]

JCEM Case Rep
Ibeas C, Giraudo F, Männistö JME, Flanagan SE, Mericq V.   +4 more
europepmc   +1 more source