R Parini Selected Research

amylo-1,6-glucosidase

12/2002	Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
5/2002	Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

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!

R Parini Research Topics

Disease

10	Fabry Disease (Fabry's Disease) 09/2017 - 01/2007
4	Mucopolysaccharidoses 08/2019 - 08/2011
4	Glycogen Storage Disease (Glycogenosis) 01/2014 - 07/2005
3	Disease Progression 01/2017 - 09/2008
3	Inborn Urea Cycle Disorders 04/2014 - 06/2002
3	Glycogen Storage Disease Type III (Cori's Disease) 10/2003 - 05/2002
2	Epilepsy (Aura) 04/2014 - 06/2011
2	Hyperammonemia 01/2013 - 02/2012
2	Mucopolysaccharidosis II (Hunter Syndrome) 05/2012 - 12/2009
2	Glycogen Storage Disease Type II (Pompe's Disease) 05/2012 - 01/2007
1	alpha-Mannosidosis 01/2019
1	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2017
1	Developmental Disabilities (Developmental Disability) 01/2015
1	Atrophy 01/2015
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2015
1	Status Epilepticus (Complex Partial Status Epilepticus) 04/2014
1	Epilepsia Partialis Continua 04/2014
1	Hyperargininemia 04/2014
1	Osteoporosis 01/2014
1	Metabolic Bone Diseases (Osteopenia) 01/2014
1	Hepatorenal form of glycogen storage disease 01/2013
1	Dumping Syndrome (Syndrome, Dumping) 01/2013
1	Hypoglycemia (Reactive Hypoglycemia) 01/2013
1	Angiokeratoma 04/2012
1	Infections 09/2009
1	Oral Ulcer (Mouth Ulcer) 09/2009
1	Neutropenia 09/2009
1	Inborn Genetic Diseases (Disease, Hereditary) 02/2008
1	Pain (Aches) 01/2007
1	Cataract (Cataracts) 10/2006
1	Proteinuria 07/2005
1	Abnormal Reflex (Hyperreflexia) 01/2004
1	Muscle Hypotonia (Hypotonia) 01/2004
1	Hydrops Fetalis (Fetal Edema) 01/2004
1	Polyhydramnios 01/2004
1	Cardiomegaly (Heart Hypertrophy) 01/2004
1	Glycogen Storage Disease Type IV (Andersen's Disease) 01/2004
1	Edema (Dropsy) 01/2004
1	Fetal Distress 01/2004
1	Graft vs Host Disease (Graft-Versus-Host Disease) 05/2003
1	Ornithine Carbamoyltransferase Deficiency Disease 06/2002
1	Congenital Disorders of Glycosylation 04/2001
1	Neuraminidase deficiency with beta-galactosidase deficiency 11/2000
1	Mucolipidoses (Sialidosis) 11/2000

Drug/Important Bio-Agent (IBA)

10	EnzymesIBA 09/2017 - 01/2000
4	agalsidase alfaIBA 05/2012 - 01/2007
3	alpha-Galactosidase (Beano)IBA 09/2017 - 11/2008
3	GlycosaminoglycansIBA 01/2017 - 12/2009
3	GlycogenIBA 10/2003 - 05/2002
2	globotriaosylceramide (globotriosylceramide)IBA 09/2017 - 08/2007
2	Arginine (L-Arginine)FDA Link 04/2014 - 06/2011
2	CarbohydratesIBA 01/2013 - 04/2001
2	GalactosidasesIBA 04/2012 - 03/2012
2	Proteins (Proteins, Gene)FDA Link 02/2008 - 01/2000
2	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 10/2003 - 12/2002
2	amylo-1,6-glucosidaseIBA 12/2002 - 05/2002
1	Human Growth Hormone (Saizen)FDA LinkGeneric 08/2019
1	Growth Hormone (Somatotropin)IBA 08/2019
1	alpha-Mannosidase (LAMAN)IBA 01/2019
1	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2017
1	galsulfase FDA Link 01/2017
1	human GALNS proteinIBA 01/2017
1	Dermatan SulfateIBA 01/2017
1	CreatinineIBA 01/2017
1	Congenital disorder of glycosylation type 1AIBA 01/2015
1	erucylphosphocholineIBA 04/2014
1	Anticonvulsants (Antiepileptic Drugs)IBA 04/2014
1	ArginaseIBA 04/2014
1	Urea (Carbamide)FDA LinkGeneric 04/2014
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/2014
1	Hypoglycemic Agents (Hypoglycemics)IBA 01/2013
1	VitaminsIBA 01/2013
1	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 02/2012
1	Ligases (Synthetase)IBA 02/2012
1	Anesthetics (Anesthetic Agents)IBA 08/2011
1	Reactive Oxygen Species (Oxygen Radicals)IBA 09/2009
1	AntioxidantsIBA 09/2009
1	Vitamin E FDA LinkGeneric 09/2009
1	GlycosphingolipidsIBA 09/2008
1	cobamamide (adenosylcobalamin)IBA 02/2008
1	Methylmalonyl-CoA MutaseIBA 02/2008
1	alpha-Glucosidases (Acid Maltase)IBA 01/2007
1	human GAA protein (Myozyme)FDA Link 01/2007
1	AcidsIBA 01/2007
1	Analgesics (Analgesic Drugs)IBA 01/2007
1	Galactose (Galactopyranose)FDA LinkGeneric 10/2006
1	Glucose (Dextrose)FDA LinkGeneric 10/2006
1	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 07/2005
1	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA 01/2004
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 06/2002
1	LectinsIBA 04/2001
1	Hormones (Hormone)IBA 04/2001
1	Glycoproteins (Glycoprotein)IBA 04/2001
1	GlycoconjugatesIBA 11/2000
1	Neuraminidase (Sialidase)IBA 11/2000

Therapy/Procedure

9	Enzyme Replacement Therapy 09/2017 - 01/2007
3	Therapeutics 01/2014 - 07/2005
1	Hemodiafiltration 01/2013
1	Cesarean Section (Caesarean Section) 01/2004
1	Hematopoietic Stem Cell Transplantation 05/2003