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Marzia Pasquali Selected Research
Marzia Pasquali Research Topics
Disease
12
Chronic Renal Insufficiency
01/2022 - 11/2012
10
Chronic Kidney Disease-Mineral and Bone Disorder (Renal Rickets)
01/2022 - 11/2010
7
Inflammation (Inflammations)
01/2021 - 01/2007
7
Secondary Hyperparathyroidism
01/2020 - 05/2002
5
Renal Insufficiency (Renal Failure)
01/2023 - 05/2002
5
Guanidinoacetate methyltransferase deficiency
12/2021 - 02/2011
5
Hypoglycemia (Reactive Hypoglycemia)
01/2017 - 04/2004
4
VLCAD deficiency
11/2023 - 08/2013
4
Medium chain acyl CoA dehydrogenase deficiency
04/2023 - 02/2008
4
Seizures (Absence Seizure)
09/2021 - 11/2013
4
Intellectual Disability (Idiocy)
09/2021 - 03/2014
4
Cardiovascular Diseases (Cardiovascular Disease)
01/2021 - 11/2014
4
Osteoporosis
01/2021 - 11/2010
4
Galactosemias (Galactosemia)
11/2018 - 01/2018
4
Vascular Calcification
11/2016 - 01/2007
3
Phenylketonurias (Phenylketonuria)
12/2020 - 01/2009
3
Atherosclerosis
01/2020 - 12/2018
3
Mucopolysaccharidoses
01/2020 - 03/2013
3
Mucopolysaccharidosis I (Hurler Syndrome)
11/2019 - 12/2016
2
Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
11/2023 - 01/2022
2
Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
10/2023 - 03/2013
2
Lysosomal Storage Diseases (Lysosomal Storage Disease)
10/2023 - 12/2016
2
Isobutyryl-CoA dehydrogenase deficiency
04/2023 - 10/2016
2
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
04/2023 - 10/2016
2
2-Methylbutyryl-CoA Dehydrogenase Deficiency
04/2023 - 10/2016
2
isovaleric Acidemia
04/2023 - 10/2016
2
Short chain Acyl CoA dehydrogenase deficiency
04/2023 - 10/2016
2
Fistula
01/2021 - 04/2020
2
Insulin Resistance
01/2020 - 10/2004
2
Kidney Diseases (Kidney Disease)
01/2020 - 01/2019
2
Mucopolysaccharidosis IV (Morquio Syndrome)
01/2020 - 03/2013
2
Acidosis
01/2019 - 05/2011
2
Metabolic Bone Diseases (Osteopenia)
12/2018 - 11/2010
2
Propionic Acidemia
01/2017 - 06/2006
2
Chronic Kidney Failure (Chronic Renal Failure)
11/2016 - 11/2012
2
Pyridoxine-dependent epilepsy
04/2016 - 01/2016
2
Mitochondrial Diseases (Mitochondrial Disease)
03/2015 - 02/2008
2
Glutaric Acidemia I
08/2012 - 05/2006
2
Hepatic Encephalopathy
01/2012 - 04/2007
2
Muscular Diseases (Myopathy)
01/2012 - 03/2008
2
Cardiomyopathies (Cardiomyopathy)
04/2007 - 05/2006
2
Hyperammonemia
06/2006 - 05/2006
Drug/Important Bio-Agent (IBA)
12
Minerals
IBA
01/2022 - 11/2014
8
Fatty Acids (Saturated Fatty Acids)
IBA
11/2023 - 04/2007
8
Biomarkers (Surrogate Marker)
IBA
10/2023 - 11/2014
8
Proteins (Proteins, Gene)
FDA Link
01/2022 - 01/2007
6
Enzymes
IBA
10/2023 - 03/2013
6
Creatine
IBA
12/2021 - 02/2011
4
glycocyamine
IBA
12/2021 - 02/2011
4
Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)
IBA
09/2021 - 02/2011
4
Calcium
IBA
03/2021 - 09/2011
4
Carnitine (L-Carnitine)
FDA Link
Generic
01/2019 - 04/2004
4
Ornithine
IBA
01/2017 - 02/2011
3
Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)
IBA
11/2023 - 08/2013
3
Arginine (L-Arginine)
FDA Link
12/2021 - 02/2011
3
Urea (Carbamide)
FDA Link
Generic
12/2021 - 06/2006
3
Sodium
IBA
03/2021 - 05/2011
3
Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)
IBA
01/2020 - 02/2008
3
Insulin (Novolin)
FDA Link
01/2020 - 10/2004
3
Glucose (Dextrose)
FDA Link
Generic
01/2020 - 01/2007
3
Alkaline Phosphatase
IBA
12/2018 - 03/2008
3
UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)
IBA
11/2018 - 01/2018
3
Lysine (L-Lysine)
FDA Link
01/2016 - 05/2006
3
Parathyroid Hormone (Parathormone)
IBA
11/2014 - 03/2009
2
Adenosine Monophosphate (AMP)
IBA
11/2023 - 11/2018
2
Sulfatases
IBA
10/2023 - 03/2013
2
3-methylcrotonyl CoA carboxylase 1 deficiency
IBA
04/2023 - 10/2016
2
Acids
IBA
01/2022 - 12/2020
2
Creatinine
IBA
01/2022 - 05/2002
2
Glycine (Aminoacetic Acid)
FDA Link
Generic
12/2021 - 11/2013
2
Electrolytes
IBA
03/2021 - 11/2010
2
Oxygen (Dioxygen)
IBA
01/2021 - 01/2018
2
Cytokines
IBA
07/2020 - 12/2018
2
Oxidoreductases (Dehydrogenase)
IBA
01/2020 - 01/2016
2
Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)
IBA
11/2018 - 01/2009
2
galactose-1-phosphate
IBA
11/2018 - 01/2018
2
Galactose (Galactopyranose)
FDA Link
Generic
09/2018 - 01/2018
2
propionic acid (potassium propionate)
IBA
01/2017 - 06/2006
2
Ammonia
IBA
01/2017 - 03/2015
2
Glutamine (L-Glutamine)
FDA Link
01/2017 - 06/2006
2
Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)
IBA
01/2017 - 06/2006
2
Oxaloacetic Acid (Oxalacetic Acid)
IBA
01/2017 - 06/2006
2
Citric Acid (Citrate)
FDA Link
Generic
01/2017 - 06/2006
2
2-methylcitric acid
IBA
01/2017 - 06/2006
2
Glycosaminoglycans
IBA
12/2016 - 03/2013
2
Vitamin D
FDA Link
Generic
11/2016 - 11/2012
2
pipecolic acid
IBA
04/2016 - 01/2016
2
X-linked Creatine deficiency
IBA
01/2016 - 02/2011
2
Collagen
IBA
11/2014 - 06/2008
2
Calcitriol (Calcijex)
FDA Link
Generic
11/2012 - 11/2010
2
Tryptophan (L-Tryptophan)
FDA Link
08/2012 - 05/2006
2
Hydroxylysine
IBA
08/2012 - 05/2006
2
Diphosphonates (Bisphosphonates)
IBA
11/2011 - 09/2011
2
Hydrocortisone (Cortisol)
FDA Link
Generic
08/2009 - 01/2007
1
Member 1 Subfamily D ATP Binding Cassette Transporter
IBA
11/2023
Therapy/Procedure
11
Therapeutics
09/2021 - 04/2004
5
Renal Dialysis (Hemodialysis)
02/2023 - 06/2015
2
Peritoneal Dialysis
01/2023 - 01/2019
2
Central Venous Catheters
01/2021 - 04/2020
2
Parathyroidectomy
10/2018 - 01/2018