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Giancarlo Parenti Selected Research

Fructose Intolerance (Intolerance, Fructose)

10/2019Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.
12/2010Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
12/2004Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

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Giancarlo Parenti Research Topics

Disease

21Glycogen Storage Disease Type II (Pompe's Disease)
01/2022 - 03/2007
11Muscular Diseases (Myopathy)
11/2018 - 03/2007
8Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2020 - 09/2002
6Glycogen Storage Disease (Glycogenosis)
07/2021 - 04/2010
5Phenylketonurias (Phenylketonuria)
11/2021 - 04/2009
5Metabolic Diseases (Metabolic Disease)
01/2020 - 12/2010
5Mucopolysaccharidoses
11/2018 - 03/2008
4Chondrodysplasia Punctata (Stippled Epiphyses)
01/2018 - 03/2003
4Lathosterolosis
07/2015 - 10/2002
4Fabry Disease (Fabry's Disease)
01/2014 - 06/2009
3Hepatorenal form of glycogen storage disease
01/2022 - 07/2015
3Neutropenia
07/2021 - 08/2005
3Glycogen Storage Disease Type I
01/2020 - 04/2008
3Inborn Genetic Diseases (Disease, Hereditary)
10/2019 - 02/2013
3Fructose Intolerance (Intolerance, Fructose)
10/2019 - 12/2004
3Metachromatic Leukodystrophy (Sulfatide Lipidosis)
01/2018 - 09/2006
3Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
01/2018 - 05/2003
3Inborn Errors Metabolism (Inborn Errors of Metabolism)
07/2015 - 05/2003
3Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
07/2015 - 03/2003
3Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
03/2015 - 03/2008
2Hypoglycemia (Reactive Hypoglycemia)
01/2022 - 01/2021
2Mitochondrial Diseases (Mitochondrial Disease)
01/2021 - 11/2018
2Glycogen Storage Disease Type III (Cori's Disease)
01/2020 - 05/2016
2Homocystinuria
12/2019 - 06/2015
2Necrosis
01/2017 - 03/2008
2Hyperlipidemias (Hyperlipidemia)
05/2016 - 04/2015
2Infections
01/2016 - 08/2005
2Desmosterolosis
07/2015 - 01/2005
2HEM dysplasia
07/2015 - 01/2005
2Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
02/2015 - 03/2011
2Neurologic Manifestations (Neurological Manifestations)
02/2015 - 03/2011
2Deglutition Disorders (Dysphagia)
05/2013 - 03/2011
2Lysinuric Protein Intolerance
11/2006 - 08/2004
2Gaucher Disease (Gaucher's Disease)
02/2005 - 09/2002
2Intellectual Disability (Idiocy)
01/2005 - 10/2002
1Glycogen Storage Disease IB
07/2021
1Enterocolitis
07/2021
1Crohn Disease (Crohn's Disease)
07/2021
1Brain Injuries (Brain Injury)
01/2021
1Cardiomegaly (Heart Hypertrophy)
01/2020
1Mucopolysaccharidosis III (Sanfilippo Syndrome)
01/2020
1COVID-19
01/2020
1Muscular Atrophy (Muscle Atrophy)
01/2019
1Medically Unexplained Symptoms
11/2018
1Insulin Resistance
11/2018
1Mucopolysaccharidosis IV (Morquio Syndrome)
10/2018
1Uniparental Disomy
10/2018

Drug/Important Bio-Agent (IBA)

16EnzymesIBA
01/2020 - 03/2007
12AcidsIBA
12/2021 - 05/2007
9GlucosidasesIBA
01/2022 - 03/2007
9GlycogenIBA
11/2018 - 03/2007
8alpha-Glucosidases (Acid Maltase)IBA
11/2021 - 03/2007
6HydrolasesIBA
07/2015 - 03/2007
5miglustat (Zavesca)FDA Link
02/2015 - 03/2007
4human GAA protein (Myozyme)FDA Link
01/2022 - 10/2017
4Glucose (Dextrose)FDA LinkGeneric
01/2022 - 07/2015
4Proteins (Proteins, Gene)FDA Link
11/2021 - 08/2005
4Phenylalanine (L-Phenylalanine)FDA Link
11/2021 - 12/2013
4CholesterolIBA
07/2015 - 01/2005
3Lysergic Acid Diethylamide (LSD)IBA
01/2020 - 12/2009
3LipidsIBA
01/2020 - 03/2011
3Fructose-Bisphosphate Aldolase (Aldolase)IBA
10/2019 - 12/2004
3SulfatasesIBA
01/2018 - 05/2003
3GlycosaminoglycansIBA
02/2017 - 03/2008
3N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA
03/2015 - 03/2008
3Growth Hormone (Somatotropin)IBA
03/2014 - 11/2006
3migalastatIBA
01/2014 - 06/2009
3agalsidase alfaIBA
11/2012 - 06/2009
2Neutral Amino AcidsIBA
11/2021 - 04/2020
2alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA
01/2020 - 01/2017
2Biomarkers (Surrogate Marker)IBA
01/2019 - 03/2008
2Transcription Factors (Transcription Factor)IBA
11/2017 - 05/2013
2Glucose-6-PhosphateIBA
01/2017 - 03/2014
2sapropterin (tetrahydrobiopterin)FDA Link
02/2015 - 12/2013
2Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
02/2015 - 04/2009
2Tyrosine (L-Tyrosine)FDA Link
02/2015 - 12/2013
2alpha-Galactosidase (Beano)IBA
11/2012 - 05/2012
2Cerebroside-Sulfatase (Arylsulfatase A)IBA
11/2008 - 09/2006
2Imino SugarsIBA
03/2007 - 03/2007
1Carnitine (L-Carnitine)FDA LinkGeneric
12/2021
1MicronutrientsIBA
11/2021
1AntioxidantsIBA
11/2021
1empagliflozinIBA
07/2021
1Hypoglycemic Agents (Hypoglycemics)IBA
01/2021
1CalciumIBA
01/2021
1Hydrocortisone (Cortisol)FDA LinkGeneric
01/2020
1Creatine Kinase (Creatine Phosphokinase)IBA
01/2020
1Methionine (L-Methionine)FDA Link
12/2019
1Methionine AdenosyltransferaseIBA
12/2019
1CystathionineIBA
12/2019
1FructoseIBA
10/2019
1MicroRNAs (MicroRNA)IBA
01/2019
1CarbohydratesIBA
11/2018
1Messenger RNA (mRNA)IBA
10/2018
1DNA (Deoxyribonucleic Acid)IBA
10/2018
1Keratan SulfateIBA
10/2018

Therapy/Procedure

21Therapeutics
11/2021 - 03/2007
11Enzyme Replacement Therapy
01/2022 - 05/2003
1Protein-Restricted Diet (Diet, Protein Restricted)
11/2021
1Continuity of Patient Care
01/2020