David S Rosenblatt Selected Research

Megaloblastic Anemia

1/2020	Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
7/2016	Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.
1/2015	Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.
2/2013	Severe combined immunodeficiency resulting from mutations in MTHFD1.
7/2012	Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
10/2007	Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
7/2003	The molecular basis of glutamate formiminotransferase deficiency.
1/2003	Update on cobalamin, folate, and homocysteine.

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David S Rosenblatt Research Topics

Disease

23	Methylmalonic acidemia 10/2022 - 11/2002
8	Homocystinuria 10/2022 - 07/2002
8	Megaloblastic Anemia 01/2020 - 01/2003
7	Methylenetetrahydrofolate reductase deficiency 02/2016 - 01/2003
5	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2020 - 09/2011
5	Congenital Abnormalities (Deformity) 11/2012 - 05/2002
4	Hyperhomocysteinemia 01/2014 - 05/2002
3	Hereditary Folate Malabsorption 01/2020 - 08/2007
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 11/2002
3	Methylmalonic acidemia with homocystinuria 07/2009 - 01/2006
2	Arakawa syndrome 2 01/2022 - 07/2012
2	Intrinsic Factor Deficiency 01/2022 - 02/2011
2	Melanoma (Melanoma, Malignant) 01/2021 - 04/2009
2	Neoplasms (Cancer) 01/2021 - 04/2009
2	Proteinuria 05/2013 - 03/2005
2	Atypical Hemolytic Uremic Syndrome 02/2013 - 07/2012
2	Glutamate formiminotransferase deficiency 07/2012 - 07/2003
2	Infections 04/2009 - 10/2007
1	Metabolic Diseases (Metabolic Disease) 07/2022
1	alpha-Thalassemia 07/2022
1	Pulmonary Hypertension 01/2022
1	Respiratory Insufficiency (Respiratory Failure) 01/2022
1	Glioma (Gliomas) 01/2021
1	Reinfection 01/2020
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2017
1	Propionic Acidemia 12/2016
1	Bone Diseases (Bone Disease) 10/2016
1	Osteonecrosis (Kienbock's Disease) 10/2016
1	Hemolytic-Uremic Syndrome 07/2016
1	Obesity 05/2016
1	Congenital Disorders of Glycosylation 05/2016
1	Megalencephaly 05/2016
1	Neurologic Manifestations (Neurological Manifestations) 01/2016
1	Severe combined immunodeficiency due to adenosine deaminase deficiency 01/2015
1	Ataxia (Dyssynergia) 08/2014
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 08/2014
1	Spastic Paraparesis 07/2014
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 06/2014
1	Venous Thromboembolism 01/2014
1	Venous Thrombosis (Deep-Vein Thrombosis) 01/2014
1	Spontaneous Abortion (Miscarriage) 09/2013
1	Nephrotic Syndrome (Syndrome, Nephrotic) 05/2013
1	Leukopenia 02/2013
1	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi) 02/2012
1	Combined Malonic and Methylmalonic Aciduria 09/2011
1	Muscular Dystrophies (Muscular Dystrophy) 07/2011
1	Cardiovascular Diseases (Cardiovascular Disease) 07/2011
1	Nervous System Diseases (Neurological Disorders) 07/2011

Drug/Important Bio-Agent (IBA)

24	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 10/2022 - 07/2003
13	Folic Acid (Vitamin M)FDA LinkGeneric 01/2020 - 05/2002
12	HomocysteineIBA 01/2022 - 05/2002
9	EnzymesIBA 07/2016 - 07/2003
8	VitaminsIBA 01/2020 - 11/2002
7	Proteins (Proteins, Gene)FDA Link 10/2016 - 04/2006
6	cobamamide (adenosylcobalamin)IBA 01/2022 - 12/2004
5	Coenzymes (Enzyme Cofactors)IBA 01/2022 - 11/2002
5	Methylmalonyl-CoA MutaseIBA 01/2022 - 01/2006
5	Methionine (L-Methionine)FDA Link 01/2021 - 04/2009
5	Methylmalonic AcidIBA 12/2016 - 09/2009
4	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2020
4	Transcobalamins (Transcobalamin II)IBA 01/2020 - 09/2009
3	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase (Methyltetrahydrofolate Homocysteine Methyltransferase)IBA 01/2022 - 07/2002
3	mecobalamin (methylcobalamin)IBA 01/2022 - 07/2002
3	DNA (Deoxyribonucleic Acid)IBA 07/2016 - 09/2013
3	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 07/2014 - 01/2003
3	Amino Acids FDA Link 01/2014 - 05/2002
2	Oxidoreductases (Dehydrogenase)IBA 01/2020 - 08/2014
2	Methylenetetrahydrofolate Dehydrogenase (NADP) (Dehydrogenase, Methylenetetrahydrofolate)IBA 01/2020 - 07/2012
2	Betaine (C.B.B.)FDA Link 08/2014 - 07/2014
2	methionine synthase reductaseIBA 07/2012 - 10/2007
2	methylmalonyl-coenzyme A racemase (methylmalonyl-CoA epimerase)IBA 10/2007 - 08/2006
2	Nonsense Codon (Nonsense Mutation)IBA 08/2006 - 05/2003
1	Glycated Hemoglobin (Glycosylated Hemoglobin)IBA 07/2022
1	dimemorfan (AT 17)IBA 01/2022
1	Cell ExtractsIBA 01/2020
1	GTP-Binding Proteins (G-Protein)IBA 01/2019
1	tRNA isopentenyltransferaseIBA 01/2017
1	CalciumIBA 10/2016
1	carbohydrate-deficient transferrinIBA 05/2016
1	purineIBA 01/2015
1	Thymidine Monophosphate (TMP)IBA 01/2015
1	NucleotidesIBA 01/2015
1	Adenosine DeaminaseIBA 01/2015
1	5,10-methylenetetrahydrofolic acidIBA 08/2014
1	Leucovorin (Folinic Acid)FDA Link 08/2014
1	CystathionineIBA 01/2014
1	factor V LeidenIBA 01/2014
1	Hydroxocobalamin FDA Link 02/2013
1	Proton-Coupled Folate TransporterIBA 07/2012
1	Formate-Tetrahydrofolate LigaseIBA 07/2012
1	Methenyltetrahydrofolate CyclohydrolaseIBA 07/2012
1	Tetrahydrofolate Dehydrogenase (Dihydrofolate Reductase)IBA 07/2012
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 02/2012
1	malonic acid (malonate)IBA 09/2011
1	Carnitine (L-Carnitine)FDA LinkGeneric 12/2009
1	Carrier Proteins (Binding Protein)IBA 09/2009
1	AntibodiesIBA 09/2009

Therapy/Procedure

3	Therapeutics 08/2014 - 02/2013
1	Colonic Pouches (S Pouch) 11/2012
1	Complementary Therapies (Alternative Medicine) 07/2011