Nicola Brunetti-Pierri Selected Research

Argininosuccinic Aciduria

1/2021	Beclin-1-mediated activation of autophagy improves proximal and distal urea cycle disorders.
5/2012	Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
9/2009	Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?
10/2004	Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.

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Nicola Brunetti-Pierri Research Topics

Disease

10	Hyperammonemia 01/2021 - 10/2004
7	Neurodevelopmental Disorders 01/2022 - 01/2019
6	Inborn Urea Cycle Disorders 01/2021 - 10/2004
5	Liver Diseases (Liver Disease) 01/2020 - 03/2013
4	Intellectual Disability (Idiocy) 01/2022 - 10/2002
4	Argininosuccinic Aciduria 01/2021 - 10/2004
4	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2021 - 03/2013
4	Inflammation (Inflammations) 01/2018 - 01/2011
4	Chondrodysplasia Punctata (Stippled Epiphyses) 01/2018 - 03/2003
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2017 - 09/2010
4	Hyperbilirubinemia 06/2014 - 04/2011
4	Crigler-Najjar Syndrome 06/2014 - 04/2011
3	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018 - 08/2010
2	Dystonia (Limb Dystonia) 01/2022 - 01/2013
2	Microcephaly 01/2022 - 10/2019
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2022 - 01/2021
2	Thyrotoxicosis 01/2022 - 01/2020
2	Mucopolysaccharidoses 01/2022 - 01/2018
2	Ornithine Carbamoyltransferase Deficiency Disease 01/2021 - 01/2018
2	Growth mental deficiency syndrome of Myhre 01/2021 - 08/2014
2	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 01/2020 - 01/2018
2	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 01/2018 - 01/2013
2	Primary Hyperoxaluria (Oxaluria, Primary) 01/2018 - 01/2016
2	Acute Liver Failure (Fulminant Hepatic Failure) 01/2018 - 01/2018
2	Cataract (Cataracts) 10/2017 - 06/2012
2	Marfan Syndrome (Marfan's Syndrome) 08/2014 - 09/2012
2	Pyruvate Dehydrogenase Complex Deficiency Disease 07/2014 - 03/2013
2	Lactic Acidosis 07/2014 - 03/2013
2	Fibrosis (Cirrhosis) 07/2013 - 10/2004
2	Hemophilia B (Haemophilia B) 10/2012 - 05/2009
2	Hypertension (High Blood Pressure) 05/2012 - 09/2009
2	Pneumonia (Pneumonitis) 01/2011 - 09/2010
2	Cystic Fibrosis (Mucoviscidosis) 01/2011 - 09/2010
2	Lathosterolosis 01/2005 - 10/2002
1	Cerebellar Ataxia (Dysmetria) 01/2022
1	Genomic Instability 01/2022
1	Migraine Disorders (Migraine) 01/2022
1	Hemophilia A (Haemophilia) 01/2021
1	Liver Cirrhosis (Hepatic Cirrhosis) 01/2021
1	Congenital Heart Defects (Congenital Heart Defect) 01/2021
1	Floating-harbor syndrome 01/2021
1	Megalencephaly 01/2021
1	Nervous System Diseases (Neurological Disorders) 10/2020
1	Emphysema 01/2020
1	Metabolic Diseases (Metabolic Disease) 01/2020
1	Hypothyroidism 01/2020

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 01/2022 - 09/2010
10	EnzymesIBA 01/2020 - 12/2006
6	AmmoniaIBA 11/2019 - 10/2004
6	Urea (Carbamide)FDA LinkGeneric 11/2019 - 10/2004
4	NitrogenIBA 01/2021 - 10/2004
4	RNA (Ribonucleic Acid)IBA 01/2021 - 04/2016
4	Transcription Factors (Transcription Factor)IBA 01/2018 - 07/2013
3	Beclin-1IBA 01/2021 - 01/2011
3	Losartan (Cozaar)FDA LinkGeneric 01/2021 - 08/2014
3	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 01/2018 - 03/2013
3	Nitric Oxide (Nitrogen Monoxide)FDA Link 01/2018 - 09/2009
3	BilirubinIBA 06/2014 - 04/2011
3	TransferasesIBA 10/2013 - 01/2005
2	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2022 - 01/2018
2	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 01/2019
2	Thyroid HormonesIBA 01/2022 - 01/2020
2	SulfatasesIBA 01/2020 - 01/2018
2	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 11/2019 - 01/2018
2	Ligases (Synthetase)IBA 11/2019 - 01/2018
2	SphingolipidsIBA 10/2019 - 10/2019
2	Oxidoreductases (Dehydrogenase)IBA 01/2018 - 07/2014
2	Pharmaceutical PreparationsIBA 01/2018 - 06/2012
2	Pyruvic Acid (Pyruvate)IBA 01/2018 - 07/2014
2	Phosphotransferases (Kinase)IBA 01/2018 - 07/2014
2	Sirolimus (Rapamycin)FDA Link 01/2018 - 01/2018
2	Antihypertensive Agents (Antihypertensives)IBA 08/2014 - 05/2012
2	Capsid Proteins (Capsid Protein)IBA 04/2014 - 04/2011
2	UridineIBA 10/2013 - 04/2011
2	Factor IX (Coagulation Factor IX)FDA LinkGeneric 10/2012 - 05/2009
2	Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA 01/2011 - 09/2010
2	Argininosuccinic AcidIBA 09/2009 - 10/2004
2	ArginaseIBA 07/2009 - 10/2004
2	beta-Galactosidase (Lactaid)IBA 08/2008 - 10/2007
1	Adenosine Triphosphatases (ATPase)IBA 01/2022
1	Heterogeneous-Nuclear Ribonucleoprotein UIBA 01/2022
1	GTP-Binding Proteins (G-Protein)IBA 01/2022
1	Argininosuccinate LyaseIBA 01/2021
1	JNK Mitogen-Activated Protein KinasesIBA 01/2021
1	Orotic AcidIBA 01/2021
1	Platelet-Derived Growth FactorIBA 01/2021
1	platelet-derived growth factor AIBA 01/2021
1	MicroRNAs (MicroRNA)IBA 01/2021
1	P-2 (P 2)IBA 01/2021
1	Peptides (Polypeptides)IBA 01/2021
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 01/2021
1	Adenosine Triphosphate (ATP)IBA 10/2020
1	KinesinsIBA 10/2020
1	N-formylglycineIBA 01/2020
1	Peptide Hydrolases (Proteases)FDA Link 01/2020

Therapy/Procedure

16	Therapeutics 01/2021 - 02/2011
3	Liver Transplantation 01/2017 - 03/2013
1	Enzyme Replacement Therapy 01/2022
1	Hematopoietic Stem Cell Transplantation 01/2022
1	Continuity of Patient Care 01/2020