Monogenic diabetes: a new pathogenic variant of HNF1A gene

Maturity onset diabetes of the young defines a diabetes mellitus subtype, with no insulin resistance or autoimmune pancreatic β-cells dysfunction, that occurs by mutation in a single gene. A 13-year-old girl hospitalised due to hyperglycemia plus glycosuria without ketosis, and with normal glycated...

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Veröffentlicht in:	BMJ case reports 2021-01, Vol.14 (1), p.e231837
Hauptverfasser:	Oliveira, Raquel Vilela, Bernardo, Teresa, Martins, Sandrina, Sequeira, Ana
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age Antibodies Blood Glucose - metabolism Case reports Diabetes Diabetes Mellitus, Type 2 - diagnosis Diabetes Mellitus, Type 2 - drug therapy Diabetes Mellitus, Type 2 - genetics Diabetes Mellitus, Type 2 - metabolism Disease Family medical history Fasting - metabolism Female Genes Glucose Glucose Tolerance Test Glyburide - therapeutic use Glycated Hemoglobin A - metabolism Hepatocyte Nuclear Factor 1-alpha - genetics Humans Hyperglycemia Hypoglycemic Agents - therapeutic use Insulin Ketosis Laboratories Meals Metabolic syndrome Mutation Patients Pediatrics Pedigree Peptides Postprandial Period Rare Disease Sequence Deletion
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