Jeremy A Schwartzentruber Selected Research

mecobalamin (methylcobalamin)

9/2011

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

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Jeremy A Schwartzentruber Research Topics

Disease

2	Salmonella Infections (Salmonellosis) 01/2019 - 01/2014
2	Infections 01/2019 - 02/2015
1	Coenzyme Q10 Deficiency 01/2018
1	Metabolic Diseases (Metabolic Disease) 01/2018
1	Cerebral Malaria 02/2015
1	Pontocerebellar Hypoplasia Type 6 11/2014
1	Seizures (Absence Seizure) 07/2014
1	Sedaghatian type Spondylometaphyseal dysplasia 07/2014
1	Typhoid Fever (Typhoid) 01/2014
1	Megalencephaly 06/2012
1	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi) 02/2012
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 09/2011

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 01/2019 - 02/2015
2	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 02/2015 - 01/2014
2	EnzymesIBA 07/2014 - 06/2012
1	ubiquinone 9IBA 01/2018
1	coenzyme Q10 (CoQ10)IBA 01/2018
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2014
1	Topiramate (Topamax)FDA LinkGeneric 07/2014
1	Phospholipid Hydroperoxide Glutathione PeroxidaseIBA 07/2014
1	Interleukin-12 (IL 12)IBA 01/2014
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 02/2012
1	Methylmalonic AcidIBA 09/2011
1	HomocysteineIBA 09/2011
1	mecobalamin (methylcobalamin)IBA 09/2011