Results 81 to 90 of about 3,174 (161)

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

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

Germline and somatic mutations in histologically atypical congenital hyperinsulinism. [PDF]

Front Endocrinol (Lausanne)
Larsen AR, Globa E, Andersen DC, Limbert C, Mattsson ÅL, Nielsen AL, Mortensen MB, Hejbøl EK, Brusgaard K, Detlefsen S, Christesen HT.   +10 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

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   +1 more source

PI3K inhibition with alpelisib: a new hope for congenital hyperinsulinism. [PDF]

Ann Med Surg (Lond)
Ali MR, Khalique A, Abufatima IO.
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

Congenital hyperinsulinism due to NEUROD1 gene mutation. [PDF]

Ann Pediatr Endocrinol Metab
Kim I, Cheon CK.
europepmc   +1 more source

Utility of continuous glucose monitoring during pancreatic surgery in patients with congenital hyperinsulinism. [PDF]

Front Endocrinol (Lausanne)
Worthington S, Worth C, Auckburally S, Bowler M, Beauve B, O'Shea E, Craigie RJ, Salomon-Estebanez M, Banerjee I.   +8 more
europepmc   +1 more source

CONGENITAL HYPERINSULINISM (HYPERAMMONEMIA HYPERINSULINISM)

Journal of Evidence Based Medicine and Healthcare, 2015
openaire   +1 more source