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L R Desviat Selected Research
L R Desviat Research Topics
Disease
10
Propionic Acidemia
01/2020 - 09/2001
5
Inborn Genetic Diseases (Disease, Hereditary)
01/2018 - 09/2000
4
Methylmalonic acidemia
01/2016 - 12/2007
3
Metabolic Diseases (Metabolic Disease)
01/2020 - 01/2003
3
Phenylketonurias (Phenylketonuria)
01/2018 - 01/2000
2
Methylmalonic aciduria cblB type
01/2022 - 01/2018
1
Mitochondrial Diseases (Mitochondrial Disease)
01/2020
1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2018
1
Maple Syrup Urine Disease
01/2016
1
Congenital Disorders of Glycosylation
01/2015
1
Rare Diseases (Rare Disease)
08/2014
1
Tyrosinemias (Tyrosinemia)
08/2014
1
Inborn Errors Metabolism (Inborn Errors of Metabolism)
12/2007
1
Neurodegenerative Diseases (Neurodegenerative Disease)
12/2007
Drug/Important Bio-Agent (IBA)
7
Enzymes
IBA
01/2022 - 12/2001
7
Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)
IBA
01/2020 - 12/2001
5
6-propylchromone-2-carboxylic acid (PCCA)
IBA
09/2004 - 09/2001
4
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
1
cob(I)alamin adenosyltransferase
IBA
01/2022
1
Reactive Oxygen Species (Oxygen Radicals)
IBA
01/2020
1
Calcium
IBA
01/2020
1
Congenital disorder of glycosylation type 1A
IBA
01/2018
1
Branched-Chain Amino Acids
IBA
01/2016
1
Vitamin B 12 (Cyanocobalamin)
FDA Link
Generic
06/2015
1
Sugars
IBA
01/2015
1
Glycosyltransferases
IBA
01/2015
1
Glycoside Hydrolases (Endoglycosidases)
IBA
01/2015
1
fumarylacetoacetase (fumarylacetoacetate hydrolase)
IBA
08/2014
1
succinylacetone
IBA
08/2014
1
fumarylacetoacetate
IBA
08/2014
1
Tyrosine (L-Tyrosine)
FDA Link
08/2014
1
Aminoglycosides
IBA
11/2012
1
Nonsense Codon (Nonsense Mutation)
IBA
11/2012
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
Mitochondrial Proteins (Mitochondrial Protein)
IBA
01/2003
1
Biotin (Vitamin H)
FDA Link
01/2003
Therapy/Procedure
2
Therapeutics
12/2009 - 12/2007