M A Donati Selected Research

M A Donati Research Topics

Disease

4	Glycogen Storage Disease Type II (Pompe's Disease) 01/2015 - 10/2005
3	Fabry Disease (Fabry's Disease) 09/2017 - 02/2010
3	Inborn Urea Cycle Disorders 02/2012 - 06/2002
3	Methylmalonic acidemia 12/2008 - 04/2000
2	Hyperammonemia 02/2012 - 10/2003
2	Mucolipidoses (Sialidosis) 11/2009 - 11/2000
2	Cardiomyopathies (Cardiomyopathy) 12/2004 - 01/2000
2	Glycogen Storage Disease Type III (Cori's Disease) 10/2003 - 12/2002
2	Ornithine Carbamoyltransferase Deficiency Disease 06/2002 - 04/2000
1	Intellectual Disability (Idiocy) 10/2014
1	Language Development Disorders (Semantic-Pragmatic Disorder) 10/2014
1	Muscle Hypotonia (Hypotonia) 10/2014
1	Seizures (Absence Seizure) 10/2014
1	Disease Progression 05/2012
1	Glycogen Storage Disease (Glycogenosis) 05/2012
1	Mucopolysaccharidosis IV (Morquio Syndrome) 03/2012
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 07/2011
1	Diarrhea 07/2011
1	Autoimmune Diseases (Autoimmune Disease) 07/2011
1	Hemolytic-Uremic Syndrome 07/2011
1	Rhabdomyolysis 07/2011
1	Ciliopathies 10/2009
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 07/2009
1	1 Rippling muscle disease 06/2008
1	Uniparental Disomy 11/2007
1	Hyperkalemia 07/2006
1	Hypoaldosteronism (Hyporeninemic Hypoaldosteronism) 07/2006
1	Chronic Renal Insufficiency 07/2006
1	Renal Insufficiency (Renal Failure) 07/2006
1	Dihydropyrimidinase Deficiency 05/2006
1	Dihydropyrimidine Dehydrogenase Deficiency 05/2006
1	Muscular Diseases (Myopathy) 10/2005
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 10/2005
1	Leigh Disease (Leigh's Disease) 12/2004
1	Leukoencephalopathies 12/2004
1	Lactic Acidosis 12/2004
1	Glycogen Storage Disease Type IV (Andersen's Disease) 09/2004
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 08/2002
1	Holocarboxylase Synthetase Deficiency 07/2002
1	Proteinuria 11/2001
1	Glycogen Storage Disease Type I 11/2001
1	Neuraminidase deficiency with beta-galactosidase deficiency 11/2000

Drug/Important Bio-Agent (IBA)

8	EnzymesIBA 09/2017 - 01/2000
3	Ligases (Synthetase)IBA 02/2012 - 07/2002
3	Proteins (Proteins, Gene)FDA Link 10/2009 - 01/2000
3	GlycogenIBA 10/2005 - 12/2002
2	alpha-Galactosidase (Beano)IBA 09/2017 - 02/2010
2	alpha-Glucosidases (Acid Maltase)IBA 01/2015 - 12/2008
2	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 02/2012 - 10/2003
2	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 10/2003 - 12/2002
2	Complementary DNA (cDNA)IBA 04/2000 - 01/2000
1	globotriaosylceramide (globotriosylceramide)IBA 09/2017
1	Amino Acids FDA Link 10/2014
1	Lysergic Acid Diethylamide (LSD)IBA 03/2012
1	GalactosidasesIBA 03/2012
1	SulfatasesIBA 03/2012
1	SteroidsIBA 07/2011
1	Electron Transport Complex II (Succinate-Coenzyme Q Reductase)IBA 07/2011
1	Complement System Proteins (Complement)IBA 07/2011
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 07/2011
1	chitotriosidaseIBA 11/2009
1	CitrullineIBA 07/2009
1	AcidsIBA 12/2008
1	succinylacetoneIBA 12/2008
1	Caveolin 3IBA 06/2008
1	Malonic aciduriaIBA 11/2007
1	polystyrene sulfonic acid (sodium polystyrene sulfonate)FDA LinkGeneric 07/2006
1	PotassiumIBA 07/2006
1	SodiumIBA 07/2006
1	VitaminsIBA 07/2006
1	ThymidineIBA 05/2006
1	pyrimidineIBA 05/2006
1	Pharmaceutical PreparationsIBA 10/2005
1	Mitochondrial DNA (mtDNA)IBA 12/2004
1	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA 09/2004
1	Polysaccharides (Glycans)IBA 09/2004
1	AmylopectinIBA 09/2004
1	amylo-1,6-glucosidaseIBA 12/2002
1	DNA (Deoxyribonucleic Acid)IBA 08/2002
1	Biotin (Vitamin H)FDA Link 07/2002
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 06/2002
1	Ramipril (Altace)FDA LinkGeneric 11/2001
1	GlycoconjugatesIBA 11/2000
1	Neuraminidase (Sialidase)IBA 11/2000
1	elastin-binding proteinsIBA 01/2000

Therapy/Procedure

2	Enzyme Replacement Therapy 09/2017 - 05/2012
2	Therapeutics 07/2006 - 11/2001
1	Parenteral Nutrition 12/2008
1	Vegetarian Diet (Vegetarianism) 04/2000