Detalhe da pesquisa
1.
A selective nonpeptide somatostatin receptor 5 agonist effectively decreases insulin secretion in hyperinsulinism.
J Biol Chem
; 299(6): 104816, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37178920
2.
Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism.
Curr Opin Pediatr
; 35(4): 486-493, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36974442
3.
Incidence and risk factors for hypoglycemia during maintenance chemotherapy in pediatric acute lymphoblastic leukemia.
Pediatr Blood Cancer
; 69(6): e29467, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34811879
4.
Congenital hyperinsulinism: localization of a focal lesion with 18F-FDOPA positron emission tomography.
Pediatr Radiol
; 52(4): 693-701, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668049
5.
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Am J Med Genet A
; 185(10): 2959-2975, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117828
6.
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
Am J Med Genet A
; 185(2): 566-570, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33251707
7.
Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
Am J Med Genet A
; 185(4): 1251-1255, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442921
8.
Islet Hormone and Incretin Secretion in Cystic Fibrosis after Four Months of Ivacaftor Therapy.
Am J Respir Crit Care Med
; 199(3): 342-351, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30130412
9.
Meeting Report: Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia: Highlights from the Fourth International Hyperinsulinism Symposium.
Pediatr Endocrinol Rev
; 17(3): 268-277, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741158
10.
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Am J Med Genet C Semin Med Genet
; 181(4): 682-692, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31414570
11.
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Genet Med
; 21(11): 2644-2649, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147633
12.
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Genet Med
; 21(1): 262-265, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30097611
13.
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.
Am J Med Genet A
; 179(11): 2214-2227, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31464105
14.
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Am J Med Genet A
; 179(4): 542-551, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30719864
15.
Novel Preparations of Glucagon for the Prevention and Treatment of Hypoglycemia.
Curr Diab Rep
; 19(10): 97, 2019 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31493043
16.
Treatment Threshold for Neonatal Hypoglycemia.
N Engl J Med
; 382(23): 2272, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32492314
17.
Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism.
Br J Clin Pharmacol
; 84(3): 520-532, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29077992
18.
Genetic characteristics of patients with congenital hyperinsulinism.
Curr Opin Pediatr
; 30(4): 568-575, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750770
19.
Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.
Pediatr Diabetes
; 19(5): 910-916, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29493090
20.
Incidence and risk of celiac disease after type 1 diabetes: A population-based cohort study using the health improvement network database.
Pediatr Diabetes
; 19(8): 1422-1428, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209881