Margherita Ruoppolo Selected Research

Methylmalonic acidemia with homocystinuria

9/2015	The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.
6/2015	Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

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!

Margherita Ruoppolo Research Topics

Disease

4	Phenylketonurias (Phenylketonuria) 11/2021 - 02/2012
4	Methylmalonic acidemia 07/2020 - 06/2015
4	Inborn Errors Metabolism (Inborn Errors of Metabolism) 11/2018 - 02/2012
4	Propionic Acidemia 08/2017 - 10/2011
3	Neuroblastoma 04/2022 - 11/2018
3	COVID-19 02/2022 - 01/2021
3	Neoplasms (Cancer) 11/2017 - 06/2012
3	BCR-ABL Positive Chronic Myelogenous Leukemia (Chronic Myelogenous Leukemia) 08/2013 - 10/2010
3	Neurodegenerative Diseases (Neurodegenerative Disease) 06/2003 - 01/2002
2	Infections 02/2022 - 01/2018
2	Mucopolysaccharidoses 06/2020 - 01/2020
2	Mucopolysaccharidosis III (Sanfilippo Syndrome) 06/2020 - 01/2020
2	Metabolic Diseases (Metabolic Disease) 01/2020 - 08/2017
2	Homocystinuria 12/2019 - 06/2015
2	Insulin Resistance 01/2019 - 11/2018
2	Methylmalonic acidemia with homocystinuria 09/2015 - 06/2015
2	Isobutyryl-CoA dehydrogenase deficiency 06/2015 - 10/2011
2	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 06/2015 - 12/2014
2	Medium chain acyl CoA dehydrogenase deficiency 06/2015 - 10/2011
2	Celiac Disease (Celiac Sprue) 08/2003 - 06/2003
1	Brain Diseases (Brain Disorder) 01/2022
1	Lissencephaly 01/2022
1	Classical Lissencephalies and Subcortical Band Heterotopias 01/2022
1	Breast Neoplasms (Breast Cancer) 04/2021
1	Perinatal Death 03/2021
1	Asthenia 01/2021
1	Vomiting 01/2021
1	Ciliopathies 11/2020
1	Mitochondrial Diseases (Mitochondrial Disease) 11/2018
1	Hepatorenal form of glycogen storage disease 11/2018
1	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2018
1	Fibrosis (Cirrhosis) 01/2018
1	Adenocarcinoma 01/2018
1	Maple Syrup Urine Disease 08/2017
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 07/2017

Drug/Important Bio-Agent (IBA)

12	Proteins (Proteins, Gene)FDA Link 02/2022 - 08/2003
7	EnzymesIBA 07/2020 - 02/2012
4	ProteomeIBA 04/2022 - 02/2016
4	Phenylalanine (L-Phenylalanine)FDA Link 11/2021 - 02/2012
4	LipidsIBA 01/2021 - 07/2017
4	Amino Acids FDA Link 06/2020 - 09/2015
4	Fatty Acids (Saturated Fatty Acids)IBA 06/2020 - 01/2014
4	Tyrosine (L-Tyrosine)FDA Link 02/2015 - 09/2011
3	NeuroglobinIBA 04/2022 - 04/2021
3	Methylmalonyl-CoA MutaseIBA 07/2020 - 02/2016
3	Branched-Chain Amino AcidsIBA 06/2020 - 10/2011
3	CarbohydratesIBA 11/2018 - 07/2017
3	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 02/2016 - 12/2014
3	Imatinib Mesylate (Gleevec)FDA Link 08/2013 - 10/2010
2	Biological ProductsIBA 03/2021 - 09/2011
2	Biomarkers (Surrogate Marker)IBA 11/2020 - 08/2013
2	Beta ketothiolase deficiencyIBA 06/2015 - 10/2011
2	sapropterin (tetrahydrobiopterin)FDA Link 02/2015 - 12/2013
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 02/2015 - 02/2012
2	Phosphoric Monoester Hydrolases (Phosphatases)IBA 08/2013 - 09/2011
2	TransglutaminasesIBA 08/2003 - 06/2003
2	polyglutamineIBA 01/2003 - 01/2002
1	VaccinesIBA 02/2022
1	Pharmaceutical PreparationsIBA 02/2022
1	RNA (Ribonucleic Acid)IBA 01/2022
1	Transcription Factors (Transcription Factor)IBA 01/2022
1	Neutral Amino AcidsIBA 11/2021
1	MicronutrientsIBA 11/2021
1	CarbonIBA 09/2021
1	Lactic Acid (Lactate)FDA LinkGeneric 09/2021
1	NitrogenIBA 09/2021
1	AlarminsIBA 01/2021
1	Alanine (L-Alanine)FDA Link 01/2021
1	Transaminases (Aminotransferases)IBA 01/2021
1	Aspartic Acid (Aspartate)FDA Link 01/2021
1	CytokinesIBA 01/2021
1	Interleukin-17 (Interleukin 17)IBA 01/2021
1	AdiponectinIBA 01/2021
1	Carnitine (L-Carnitine)FDA LinkGeneric 06/2020
1	GlycosaminoglycansIBA 06/2020
1	Aromatic Amino Acids (Aromatic Amino Acid)IBA 06/2020
1	methionylglutamic acidIBA 06/2020
1	serum P-component (CIt)IBA 06/2020
1	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 01/2020
1	Acetylglucosaminidase (NAGase)IBA 01/2020
1	Heparitin Sulfate (Heparan Sulfate)IBA 01/2020
1	Methionine (L-Methionine)FDA Link 12/2019
1	CystathionineIBA 12/2019
1	Methionine AdenosyltransferaseIBA 12/2019
1	Glucose (Dextrose)FDA LinkGeneric 01/2019
1	PalmitatesIBA 01/2019
1	Oleic Acid (Oleate)IBA 01/2019
1	Hormones (Hormone)IBA 01/2019
1	Thyroid HormonesIBA 01/2019
1	Small Interfering RNA (siRNA)IBA 11/2018
1	AcidsIBA 11/2018
1	Human Serum Albumin FDA LinkGeneric 01/2018
1	Fibronectins (Fibronectin)IBA 01/2018
1	Carrier Proteins (Binding Protein)IBA 08/2017
1	Malonic aciduriaIBA 08/2017
1	Urea (Carbamide)FDA LinkGeneric 07/2017
1	VitaminsIBA 01/2016

Therapy/Procedure

2	Therapeutics 01/2016 - 08/2011
1	Protein-Restricted Diet (Diet, Protein Restricted) 11/2021
1	Critical Care (Surgical Intensive Care) 01/2021