Results 191 to 200 of about 15,222 (246)

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

¹⁸F-DOPA PET/MRI With Carbidopa for the Diagnosis of Hyperinsulinemic Hypoglycemia in an Adolescent Patient. [PDF]

JCEM Case Rep
Anka C, Ponisio MR, Dillon PA, Schmitt C, Fraum TJ, Arbeláez AM.   +5 more
europepmc   +1 more source

Case report: Kabuki syndrome and persistent hypoglycemia in neonates. [PDF]

J Family Med Prim Care
Safdar OY, Abddulghfar MM, Saaty RN, Bernawi Z, Babteen R, Felemban OM.   +5 more
europepmc   +1 more source

MCV/Q, Medical College of Virginia Quarterly, Vol. 13 No. 1 [PDF]

, 1977

core   +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

Opposite kinetics of L-leucine and L-phenylalanine induced insulin release studies with the perfused rat pancreas [PDF]

, 1972
Landgraf, R., Landgraf-Leurs, M. M. C., Schwarz, K., Scriba, Peter Christian   +3 more
core  

A Focal Form of Diazoxide-resistant Congenital Hyperinsulinism with Good Response to Long-acting Somatostatin. [PDF]

J ASEAN Fed Endocr Soc
Hussain S, Mohd Fezal NS, Flanagan S.
europepmc   +1 more source

A tale of two sisters - delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia. [PDF]

Endocrinol Diabetes Metab Case Rep
Stringer F, Preston C, MacIsaac R, Inchley F, Rivera-Woll L, Farrell S, Sachithanandan N.   +6 more
europepmc   +1 more source

Congenital hyperinsulinemic hypoglycaemia in an infant with 9p deletion syndrome. [PDF]

Ann Pediatr Endocrinol Metab
Kim YM, Kim JK.
europepmc   +1 more source