Results 141 to 150 of about 10,576 (237)

Neonatal Hyperinsulinemia and Maternal Diabetes Associated With a Hepatocyte Nuclear Factor 4 Alpha (HNF4A) Variant. [PDF]

Cureus
Takasugi Y, Nakagawa R, Ono H, Nakajima Y, Takasawa K.   +4 more
europepmc   +1 more source

Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

Orphanet Journal of Rare Diseases, 2022
Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton   +7 more
doaj   +1 more source

Single-center experience description of surgical management of diffuse congenital hyperinsulinism in a pediatric non-current cohort. [PDF]

Front Endocrinol (Lausanne)
Li X, Chen C, Ji Y, Wang Y, Sang Y.
europepmc   +1 more source

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

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