Detalhe da pesquisa
1.
Case presentation of 8-year follow up of recurrent malignant duodenal Insulinoma and lymph node metastases and literature review of malignant Insulinoma management.
BMC Endocr Disord
; 22(1): 310, 2022 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36494838
2.
Glutamate dehydrogenase: Structure of a hyperinsulinism mutant, corrections to the atomic model, and insights into a regulatory site.
Proteins
; 87(1): 41-50, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30367518
3.
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
4.
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
5.
Glutamate Dehydrogenase, a Complex Enzyme at a Crucial Metabolic Branch Point.
Neurochem Res
; 44(1): 117-132, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29079932
6.
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
7.
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.
J Biol Chem
; 291(42): 21971-21983, 2016 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27573238
8.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med
; 370(6): 533-42, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24499211
9.
Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016.
Pediatr Diabetes
; 18(1): 3-9, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27753189
10.
A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase.
Pediatr Diabetes
; 18(8): 911-916, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28165182
11.
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
J Med Genet
; 53(1): 53-61, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26545876
12.
Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children.
J Pediatr
; 168: 212-219, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490124
13.
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
J Pediatr
; 175: 130-136.e8, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27206562
14.
Neonatal Hypoglycemia: GLOW at the End of the Tunnel?
J Pediatr
; 223: 10-12, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32417079
15.
Regulation of glucagon secretion in normal and diabetic human islets by γ-hydroxybutyrate and glycine.
J Biol Chem
; 288(6): 3938-51, 2013 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23266825
16.
Glutamate dehydrogenase: structure, allosteric regulation, and role in insulin homeostasis.
Neurochem Res
; 39(3): 433-45, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24122080
17.
Role of beta-hydroxybutyrate measurement in the evaluation of plasma glucose concentrations in newborn infants.
Arch Dis Child Fetal Neonatal Ed
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429075
18.
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
Nature
; 448(7153): 591-4, 2007 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-17632545
19.
Untangling the glutamate dehydrogenase allosteric nightmare.
Trends Biochem Sci
; 33(11): 557-64, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18819805
20.
New approaches to screening and management of neonatal hypoglycemia based on improved understanding of the molecular mechanism of hypoglycemia.
Front Pediatr
; 11: 1071206, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36969273