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M A Donati Selected Research

Glycogen Storage Disease Type III (Cori's Disease)

10/2003Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
12/2002Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

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M A Donati Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

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

Therapy/Procedure

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