Found: 91
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Decreased K<sub>ATP</sub> Channel Activity Contributes to the Low Glucose Threshold for Insulin Secretion of Rat Neonatal Islets.
- Published in:
- Endocrinology, 2021, v. 162, n. 9, p. 1, doi. 10.1210/endocr/bqab121
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- Publication type:
- Article
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.
- Published in:
- 2003
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- Publication type:
- journal article
Glutaminolysis and insulin secretion: from bedside to bench and back.
- Published in:
- 2002
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- Publication type:
- journal article
Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.
- Published in:
- 2001
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- Publication type:
- journal article
Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators.
- Published in:
- 2000
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- Publication type:
- journal article
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.
- Published in:
- 1999
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- Publication type:
- journal article
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.
- Published in:
- 1997
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- Publication type:
- journal article
Carnitine Deficiency Disorders in Children.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1033, n. 1, p. 42, doi. 10.1196/annals.1320.004
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- Publication type:
- Article
Hyperinsulinismus bei Säuglingen und Kindern: wenn ein Insulinspiegel nicht immer ausreicht / Hyperinsulinism in infancy and childhood: when an insulin level is not always enough<sup>1)</sup>.
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- Journal of Laboratory Medicine / Laboratoriums Medizin, 2009, v. 33, n. 3, p. 166, doi. 10.1515/JLM.2009.020
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- Publication type:
- Article
Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter.
- Published in:
- Clinical Cardiology, 1996, v. 19, n. 3, p. 243, doi. 10.1002/clc.4960190320
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- Publication type:
- Article
Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.
- Published in:
- Diabetes, 2023, v. 72, n. 12, p. 1809, doi. 10.2337/db23-0465
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- Publication type:
- Article
Regulation of K<sub>ATP</sub> Channel Trafficking in Pancreatic β-Cells by Protein Histidine Phosphorylation.
- Published in:
- 2018
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- Publication type:
- journal article
Functional and Metabolomic Consequences of K<sub>ATP</sub> Channel Inactivation in Human Islets.
- Published in:
- 2017
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- Publication type:
- journal article
Mitochondrial GTP Insensitivity Contributes to Hypoglycemia in Hyperinsulinemia Hyperammonemia by Inhibiting Glucagon Release.
- Published in:
- Diabetes, 2014, v. 63, n. 12, p. 4218, doi. 10.2337/db14-0783
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- Publication type:
- Article
GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel.
- Published in:
- 2012
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- Publication type:
- journal article
GLP-1 Receptor Antagonist Exendin-(9-39) Elevates Fasting Blood Glucose Levels in Congenital Hyperinsulinism Owing to Inactivating Mutations in the ATP-Sensitive K<sup>+</sup> Channel.
- Published in:
- Diabetes, 2012, v. 61, n. 10, p. 2585, doi. 10.2337/db12-0166
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- Publication type:
- Article
Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the β-Cell Sulfonylurea Receptor SUR1.
- Published in:
- Diabetes, 2011, v. 60, n. 6, p. 1797, doi. 10.2337/db10-1631
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- Publication type:
- Article
Extremes of Clinical and Enzymatic Phenotypes in Children With Hyperinsulinism Caused by Glucokinase Activating Mutations.
- Published in:
- Diabetes, 2009, v. 58, n. 6, p. 1419, doi. 10.2337/db08-1792
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- Publication type:
- Article
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
- Published in:
- 2007
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- Publication type:
- journal article
Congenital Hyperinsulinism-Associated ABCC8 Mutations That Cause Defective Trafficking of ATP-Sensitive K<sup>+</sup> Channels.
- Published in:
- Diabetes, 2007, v. 56, n. 9, p. 2339, doi. 10.2337/db07-0150
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- Publication type:
- Article
Chronic Elevation of IntraceHular Calcium Impairs the GABA Shunt in Pancreatic Islets of SUR1 Knockout Mice -- Studies with U-13C-Glucose.
- Published in:
- Diabetes, 2007, v. 56, p. A439
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- Publication type:
- Article
The Role of Glutamine-Glutamate-a-Ketoglutarate Axis in Amino Acid Stimulated Insulin Secretion in the beta-HC9 Cells.
- Published in:
- Diabetes, 2007, v. 56, p. A435
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- Publication type:
- Article
Two K[sub ATP] Channel Mutants with Congenital Hyperinsulinism Disease Phenotype Exhibit Diabetes-Inducing Gating Properties.
- Published in:
- Diabetes, 2007, v. 56, p. A433
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- Publication type:
- Article
A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM).
- Published in:
- Diabetes, 2007, v. 56, n. 5, p. 1357, doi. 10.2337/db06-1746
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- Publication type:
- Article
From Clinicogenetic Studies of Maturity-Onset Diabetes of the Young to Unraveling Complex Mechanisms of Glucokinase Regulation.
- Published in:
- Diabetes, 2006, v. 55, n. 6, p. 1713, doi. 10.2337/db05-1513
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- Publication type:
- Article
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
- Published in:
- 2007
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- Publication type:
- Letter
The Effect of Early Feeding on Plasma Glucose Levels in SGA Infants.
- Published in:
- Clinical Pediatrics, 1983, v. 22, n. 8, p. 539, doi. 10.1177/000992288302200803
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- Publication type:
- Article
Late effects after treatment of twenty children with soft tissue sarcomas of the head and neck. Experience at a single institution with a review of the literature.
- Published in:
- 1986
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- Publication type:
- journal article
Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.
- Published in:
- European Journal of Endocrinology, 2022, v. 187, n. 2, p. 301, doi. 10.1530/EJE-21-1095
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- Publication type:
- Article
From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 10, p. 1, doi. 10.1371/journal.pgen.1000678
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- Publication type:
- Article
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
- Published in:
- 2006
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- Publication type:
- journal article
Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report.
- Published in:
- 2006
- By:
- Publication type:
- journal article
CAUSES OF IN-FACEPIECE SAMPLING BIAS—I. HALF-FACEPIECE RESPIRATORS*.
- Published in:
- Annals of Occupational Hygiene, 1988, v. 32, n. 3, p. 345
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- Publication type:
- Article
PET/MR Imaging Consensus Paper: A Joint Paper by the Society of Nuclear Medicine and Molecular Imaging Technologist Section and the Section for Magnetic Resonance Technologists.
- Published in:
- Journal of Nuclear Medicine Technology, 2013, v. 41, n. 2, p. 108, doi. 10.2967/jnmt.113.123869
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- Publication type:
- Article
International Guidelines for the Diagnosis and Management of Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 279, doi. 10.1159/000531766
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- Publication type:
- Article
Congenital Hyperinsulinism: An Historical Perspective.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 6, p. 631, doi. 10.1159/000526442
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- Publication type:
- Article
Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 5, p. 492, doi. 10.1159/000526203
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- Publication type:
- Article
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and <bold>KDM6A</bold> Haploinsufficiency.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 6, p. 413, doi. 10.1159/000488347
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- Publication type:
- Article
Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 80, n. 1, p. 18, doi. 10.1159/000351943
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- Publication type:
- Article
A novel atypical presentation of insulin autoimmune syndrome (Hirata's disease) in a child.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 11/12, p. 1163, doi. 10.1515/jpem-2013-0215
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- Publication type:
- Article
Glutamate Dehydrogenase, a Complex Enzyme at a Crucial Metabolic Branch Point.
- Published in:
- Neurochemical Research, 2019, v. 44, n. 1, p. 117, doi. 10.1007/s11064-017-2428-0
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- Publication type:
- Article
Glutamate Dehydrogenase: Structure, Allosteric Regulation, and Role in Insulin Homeostasis.
- Published in:
- Neurochemical Research, 2014, v. 39, n. 3, p. 433, doi. 10.1007/s11064-013-1173-2
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- Publication type:
- Article
Acute Fatty Liver of Pregnancy, Hemolysis, Elevated Liver Enzymes, and Low Platelets Syndrome, and Long Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1996, v. 91, n. 11, p. 2293
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- Publication type:
- Article
Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 58, n. 5, p. 541
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- Publication type:
- Article
Short-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Associates with a Protein Super-Complex Integrating Multiple Metabolic Pathways.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035048
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- Publication type:
- Article
The Diagnosis of Ectopic Focal Hyperinsulinism of Infancy with [<sup>18</sup>F]-Dopa Positron Emission Tomography.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 8, p. 2839, doi. 10.1210/jc.2006-0455
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- Publication type:
- Article
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Acute Insulin Responses to Calcium and Tolbutamide Do Not Differentiate Focal from Diffuse Congenital Hyperinsulinism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 2, p. 925, doi. 10.1210/jc.2003-030941
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- Publication type:
- Article
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.
- Published in:
- 2004
- By:
- Publication type:
- journal article