Found: 29
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Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations.
- Published in:
- Diabetes, 2008, v. 57, n. 6, p. 1659, doi. 10.2337/db07-1657
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- Publication type:
- Article
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
- Published in:
- 2008
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- Publication type:
- journal article
Insulin Mutation Screening in 1,044 Patients With Diabetes.
- Published in:
- Diabetes, 2008, v. 57, n. 4, p. 1034, doi. 10.2337/db07-1405
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- Publication type:
- Article
Measuring the Impact of Diagnostic Decision Support on the Quality of Clinical Decision Making: Development of a Reliable and Valid Composite Score.
- Published in:
- Journal of the American Medical Informatics Association, 2003, p. 563, doi. 10.1197/jamia.M1338
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- Publication type:
- Article
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 4, p. 557, doi. 10.1530/EJE-12-0673
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- Article
Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations.
- Published in:
- European Journal of Endocrinology, 2009, v. 161, n. 5, p. 731, doi. 10.1530/EJE-09-0615
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- Publication type:
- Article
Autoimmune Encephalitis and Autism Spectrum Disorder.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.775017
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- Article
Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review.
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- Molecular Autism, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13229-023-00559-0
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- Publication type:
- Article
Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 5, p. 335, doi. 10.1159/000511874
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- Publication type:
- Article
Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature Review.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 6, p. 382, doi. 10.1159/000503784
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- Publication type:
- Article
Congenital Hyperinsulinism due to a Compound Heterozygous ABCC8 Mutation with Spontaneous Resolution at Eight Weeks.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 4, p. 287, doi. 10.1159/000284394
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- Publication type:
- Article
IgG4-related hypophysitis in adolescence.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 3, p. 395, doi. 10.1515/jpem-2020-0535
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- Publication type:
- Article
A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 6, p. 809, doi. 10.1515/jpem-2019-0503
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- Publication type:
- Article
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
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- EMBO Molecular Medicine, 2009, v. 1, n. 3, p. 166, doi. 10.1002/emmm.200900018
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- Publication type:
- Article
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.
- Published in:
- 2009
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- Publication type:
- journal article
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 25, doi. 10.1186/1750-1172-7-25
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- Publication type:
- Article
The heterogeneity of focal forms of congenital hyperinsulinism.
- Published in:
- 2012
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- Publication type:
- journal article
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
- Published in:
- 2011
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- Publication type:
- journal article
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2020, v. 21, n. 4, p. 577, doi. 10.1007/s11154-020-09548-7
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- Publication type:
- Article
New-onset diabetes mellitus following pediatric liver transplantation.
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- Pediatric Transplantation, 2013, v. 17, n. 1, p. 5, doi. 10.1111/petr.12016
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- Publication type:
- Article
Transient neonatal hyperinsulinaemic hypoglycaemia: perinatal predictors of length and cost of stay.
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- 2018
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- Publication type:
- journal article
Pituitary apoplexy in an adolescent male with macroprolactinoma presenting as middle cerebral artery territory infarction.
- Published in:
- 2022
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- Publication type:
- Case Study
Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.
- Published in:
- Pediatric Diabetes, 2009, v. 10, n. 3, p. 193, doi. 10.1111/j.1399-5448.2008.00470.x
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- Publication type:
- Article
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228417
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- Publication type:
- Article
Low‐dose diazoxide therapy in hyperinsulinaemic hypoglycaemia.
- Published in:
- Clinical Endocrinology, 2024, v. 100, n. 2, p. 140, doi. 10.1111/cen.14991
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- Publication type:
- Article
Prolactinoma in childhood and adolescence—Tumour size at presentation predicts management strategy: Single centre series and a systematic review and meta‐analysis.
- Published in:
- Clinical Endocrinology, 2021, v. 94, n. 3, p. 413, doi. 10.1111/cen.14394
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- Publication type:
- Article
Hyperinsulinaemic hypoglycaemia in deoxyguanosine kinase deficiency.
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- 2019
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- Publication type:
- Case Study
Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene.
- Published in:
- 2012
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- Publication type:
- Letter
Central Diabetes Insipidus in Children and Adolescents: Twenty-Six Year Experience from a Single Centre.
- Published in:
- International Journal of Endocrinology, 2022, p. 1, doi. 10.1155/2022/9397130
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- Publication type:
- Article