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M Ugarte Selected Research
M Ugarte Research Topics
Disease
9
Propionic Acidemia
01/2012 - 09/2001
6
Inborn Genetic Diseases (Disease, Hereditary)
01/2018 - 09/2000
4
Phenylketonurias (Phenylketonuria)
01/2018 - 01/2000
4
Methylmalonic acidemia
06/2015 - 12/2007
3
Tyrosinemias (Tyrosinemia)
08/2014 - 06/2000
3
Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2014 - 08/2002
3
Metabolic Diseases (Metabolic Disease)
07/2013 - 01/2003
2
Methylmalonic aciduria cblB type
01/2022 - 01/2018
2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2018 - 01/2011
1
VLCAD deficiency
01/2018
1
Autistic Disorder (Autism)
01/2016
1
Congenital Disorders of Glycosylation
01/2015
1
Homocystinuria
01/2015
1
Rare Diseases (Rare Disease)
08/2014
1
Molybdenum cofactor deficiency
01/2014
1
Type I Xanthinuria
01/2014
1
Purine Nucleoside Phosphorylase Deficiency
01/2014
1
Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
01/2014
1
Dihydropyrimidine Dehydrogenase Deficiency
01/2014
1
Chronic Kidney Failure (Chronic Renal Failure)
07/2013
1
Methylmalonic aciduria cblA type
07/2013
1
Hyperammonemia
01/2013
1
Fibrosis (Cirrhosis)
10/2008
1
Neurodegenerative Diseases (Neurodegenerative Disease)
12/2007
1
Ethylmalonic encephalopathy
10/2006
1
Aniseikonia
12/2005
1
Epiretinal Membrane (Epiretinal Membranes)
12/2005
1
Macular Degeneration (Age-Related Maculopathy)
06/2001
1
Dystonia (Limb Dystonia)
09/2000
1
Dyskinesias (Dyskinesia)
09/2000
Drug/Important Bio-Agent (IBA)
8
Enzymes
IBA
01/2022 - 06/2000
7
Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)
IBA
01/2012 - 12/2001
6
6-propylchromone-2-carboxylic acid (PCCA)
IBA
02/2011 - 09/2001
5
Proteins (Proteins, Gene)
FDA Link
01/2018 - 09/2000
3
Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)
IBA
01/2018 - 01/2000
2
Adenosine Triphosphate (ATP)
IBA
01/2022 - 06/2015
2
Nucleotides
IBA
01/2018 - 01/2015
2
Congenital disorder of glycosylation type 1A
IBA
01/2018 - 01/2011
2
Acids
IBA
01/2016 - 01/2014
2
fumarylacetoacetase (fumarylacetoacetate hydrolase)
IBA
08/2014 - 09/2002
2
Tyrosine (L-Tyrosine)
FDA Link
08/2014 - 06/2000
2
Nonsense Codon (Nonsense Mutation)
IBA
11/2012 - 06/2000
1
cob(I)alamin adenosyltransferase
IBA
01/2022
1
acylcarnitine
IBA
01/2018
1
Oxidoreductases (Dehydrogenase)
IBA
01/2016
1
Phosphotransferases (Kinase)
IBA
01/2016
1
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
06/2015
1
Sugars
IBA
01/2015
1
Glycoside Hydrolases (Endoglycosidases)
IBA
01/2015
1
Glycosyltransferases
IBA
01/2015
1
Cystathionine
IBA
01/2015
1
succinylacetone
IBA
08/2014
1
fumarylacetoacetate
IBA
08/2014
1
Adenylosuccinate lyase deficiency
IBA
01/2014
1
purine
IBA
01/2014
1
pyrimidine
IBA
01/2014
1
Amino Acids
FDA Link
01/2014
1
Vitamins
IBA
01/2013
1
Aminoglycosides
IBA
11/2012
1
RNA Splice Sites
IBA
02/2011
1
Iron
IBA
10/2008
1
Transaminases (Aminotransferases)
IBA
10/2008
1
Ferritins (Ferritin)
IBA
10/2008
1
Methylmalonyl-CoA Mutase
IBA
02/2008
1
cobamamide (adenosylcobalamin)
IBA
02/2008
1
Free Radicals
IBA
12/2007
1
Morpholinos
IBA
12/2007
1
Messenger RNA (mRNA)
IBA
12/2007
1
sapropterin (tetrahydrobiopterin)
FDA Link
10/2007
1
isobutyryl-1-carnitine
IBA
10/2006
1
N-acetyltalosaminuronic acid (NAT)
IBA
12/2005
1
Biotin (Vitamin H)
FDA Link
01/2003
1
Mitochondrial Proteins (Mitochondrial Protein)
IBA
01/2003
1
SAICAR
IBA
08/2002
1
Zinc
IBA
06/2001
1
Glutaryl-CoA Dehydrogenase
IBA
09/2000
1
4-Hydroxyphenylpyruvate Dioxygenase
IBA
06/2000
Therapy/Procedure
3
Therapeutics
12/2009 - 10/2006
1
Contraindications
07/2013
1
Kidney Transplantation
07/2013
1
Organ Transplantation
07/2013
1
Hemodiafiltration
01/2013
1
Lenses
12/2005