Fabrizio Barbetti Selected Research

Permanent Neonatal Diabetes Mellitus

7/2022	Very low birth weight newborn with diabetes mellitus due to pancreas agenesis managed with insulin pump reservoir filled with undiluted insulin: 16-month follow-up.
12/2018	β Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus.
8/2016	Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis.
4/2012	Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through molecular genetics in two children and in one adult after a long period of insulin treatment.
2/2007	An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
1/2005	KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Fabrizio Barbetti Research Topics

Disease

10	Diabetes Mellitus 01/2023 - 03/2008
8	Hypoglycemia (Reactive Hypoglycemia) 01/2023 - 04/2002
8	Insulin Resistance 01/2022 - 07/2005
6	Permanent Neonatal Diabetes Mellitus 07/2022 - 01/2005
6	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 08/2020 - 01/2009
6	Type 2 Diabetes Mellitus (MODY) 09/2018 - 09/2002
5	Hyperglycemia 01/2023 - 01/2005
5	Mason-Type Diabetes 01/2018 - 08/2002
3	Donohue Syndrome 01/2022 - 12/2013
3	Glucose Intolerance 10/2009 - 09/2002
2	Congenital Hyperinsulinism 09/2015 - 01/2011
2	Insulinoma 01/2014 - 06/2008
2	Epilepsy (Aura) 04/2012 - 02/2007
2	Birth Weight (Birth Weights) 02/2011 - 01/2011
2	Obesity 02/2010 - 01/2008
2	Overweight 02/2010 - 12/2008
1	Lipodystrophy 02/2024
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2023
1	Diabetes Complications 01/2023
1	Ketosis 01/2022
1	Macroglossia 04/2021
1	Umbilical Hernia (Omphalocele) 04/2021
1	Chromosome Aberrations (Chromosome Abnormalities) 10/2019
1	Neoplasms (Cancer) 01/2018
1	Acanthosis Nigricans 01/2018
1	Hirsutism 11/2015
1	Pathologic Complete Response 11/2014
1	Hyperaldosteronism (Conn Syndrome) 12/2013
1	Autoimmune Diseases (Autoimmune Disease) 04/2013
1	Type 2 Maturity-Onset Diabetes of the Young 04/2013
1	Seizures (Absence Seizure) 12/2012
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 02/2011
1	Hypersensitivity (Allergy) 01/2011
1	Uniparental Disomy 01/2011
1	Disease Progression 01/2011
1	Gestational Diabetes (Gestational Diabetes Mellitus) 03/2010
1	Celiac Disease (Celiac Sprue) 06/2009
1	Hypertension (High Blood Pressure) 01/2008
1	Developmental Delay, Epilepsy, and Neonatal Diabetes 02/2007
1	Liver Diseases (Liver Disease) 08/2002
1	Jaundice (Icterus) 08/2002
1	Hepatic Insufficiency 08/2002
1	Renal cysts and diabetes syndrome 08/2002
1	Genital Diseases 08/2002

Drug/Important Bio-Agent (IBA)

21	Insulin (Novolin)FDA Link 01/2023 - 09/2002
13	Glucose (Dextrose)FDA LinkGeneric 04/2021 - 04/2002
5	EnzymesIBA 02/2024 - 08/2002
5	Glyburide (Glibenclamide)FDA LinkGeneric 01/2023 - 06/2009
5	AutoantibodiesIBA 01/2017 - 01/2009
4	Insulin ReceptorIBA 01/2018 - 07/2005
4	GlucokinaseIBA 04/2013 - 04/2002
3	Hypoglycemic Agents (Hypoglycemics)IBA 01/2022 - 12/2009
3	Proteins (Proteins, Gene)FDA Link 07/2015 - 07/2005
2	C-PeptideIBA 01/2017 - 11/2015
2	KATP ChannelsIBA 11/2014 - 03/2008
2	Dihydroxyphenylalanine (Dopa)IBA 11/2014 - 01/2011
2	Protein Glutamine gamma Glutamyltransferase 2IBA 01/2014 - 09/2002
2	Adenosine Triphosphate (ATP)IBA 01/2011 - 02/2007
1	metreleptinIBA 02/2024
1	Metformin (Glucophage)FDA LinkGeneric 01/2022
1	empagliflozinIBA 01/2022
1	dapagliflozinIBA 01/2022
1	Exenatide (Byetta)FDA Link 01/2016
1	Glucagon (Glukagon)FDA Link 01/2016
1	LeptinIBA 01/2016
1	Furosemide (Lasix)FDA LinkGeneric 11/2015
1	Progesterone FDA LinkGeneric 11/2015
1	SecretagoguesIBA 11/2015
1	PhosphotyrosineIBA 07/2015
1	PotassiumIBA 12/2013
1	ProteomeIBA 04/2013
1	AutoantigensIBA 04/2013
1	DNA (Deoxyribonucleic Acid)IBA 12/2012
1	FHDIBA 02/2011
1	Glutamate Decarboxylase (Decarboxylase, Glutamate)IBA 03/2010
1	P-2 (P 2)IBA 12/2008
1	ProinsulinIBA 06/2008
1	HDL CholesterolIBA 01/2008
1	Triglycerides (Triacylglycerol)IBA 01/2008
1	Insulin Receptor Substrate ProteinsIBA 09/2002
1	Hepatocyte Nuclear FactorsIBA 08/2002
1	NFI Transcription FactorsIBA 08/2002
1	Peptides (Polypeptides)IBA 04/2002
1	Diazoxide (Hyperstat)FDA Link 04/2002

Therapy/Procedure

8	Therapeutics 01/2023 - 04/2012
2	Glycemic Control 01/2022 - 01/2021
1	Injections 11/2015
1	Ketogenic Diet 09/2015
1	Gluten-Free Diet 06/2009