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David S Rosenblatt Selected Research

Megaloblastic Anemia

1/2015Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.
2/2013Severe combined immunodeficiency resulting from mutations in MTHFD1.
7/2012Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
7/2011The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.
10/2007Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
7/2003The molecular basis of glutamate formiminotransferase deficiency.
1/2003Update on cobalamin, folate, and homocysteine.

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David S Rosenblatt Research Topics

Disease

9Homocystinuria
01/2014 - 07/2002
7Megaloblastic Anemia
01/2015 - 01/2003
6Hyperhomocysteinemia
01/2014 - 05/2002
5Congenital Abnormalities (Deformity)
11/2012 - 05/2002
2Seizures (Seizure)
08/2014 - 06/2005
2Acidosis
02/2011 - 07/2003
2Infection
04/2009 - 10/2007
1Ataxia (Dyssynergia)
08/2014
1Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)
08/2014
1Spastic Paraparesis
07/2014
1Hereditary Spastic Paraplegia
07/2014
1Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
06/2014
1Venous Thromboembolism
01/2014
1Venous Thrombosis (Deep-Vein Thrombosis)
01/2014
1Leukopenia
02/2013
1Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
02/2013
1Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
02/2012
1Muscular Dystrophies (Muscular Dystrophy)
07/2011
1Cardiovascular Diseases (Cardiovascular Disease)
07/2011
1Nervous System Diseases (Neurological Disorders)
07/2011
1Blepharophimosis
10/2010
1Neural Tube Defects (Exencephaly)
09/2009
1Melanoma (Melanoma, Malignant)
04/2009
1Neoplasms (Cancer)
04/2009
1Vitamin B 12 Deficiency (Vitamin B12 Deficiency)
05/2008
1Thrombosis (Thrombus)
06/2005
1Proteinuria
03/2005
1Renal Insufficiency (Renal Failure)
03/2005
1Down Syndrome (Down's Syndrome)
12/2004
1Ketosis
07/2003
1Lethargy
07/2003
1Sepsis (Septicemia)
07/2003
1Hypoglycemia (Reactive Hypoglycemia)
07/2003
1Hyperammonemia
07/2003
1Mental Retardation (Idiocy)
07/2003
1Vascular Diseases (Vascular Disease)
01/2003
1Protein Deficiency
05/2002

Drug/Important Bio-Agent (IBA)

12Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
06/2014 - 07/2003
8HomocysteineIBA
01/2014 - 05/2002
8Folic Acid (Vitamin M)FDA LinkGeneric
01/2014 - 05/2002
4Methylmalonic acidemiaIBA
09/2013 - 05/2008
3Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA
07/2014 - 01/2003
3VitaminsIBA
01/2014 - 01/2003
2Methionine (L-Methionine)FDA Link
08/2014 - 04/2009
2Betaine (C.B.B.)FDA Link
08/2014 - 07/2014
2Atypical hemolytic uremic syndromeIBA
02/2013 - 07/2012
1purineIBA
01/2015
1Thymidine Monophosphate (TMP)IBA
01/2015
1OxidoreductasesIBA
08/2014
15,10-methylenetetrahydrofolateIBA
08/2014
1Leucovorin (Folinic Acid)FDA Link
08/2014
1Methylenetetrahydrofolate reductase deficiencyIBA
07/2014
1factor V LeidenIBA
01/2014
1EnzymesIBA
01/2014
1CystathionineIBA
01/2014
1HydroxocobalaminFDA Link
02/2013
1Formate-Tetrahydrofolate LigaseIBA
07/2012
1Methylenetetrahydrofolate Dehydrogenase (NADP) (Dehydrogenase, Methylenetetrahydrofolate)IBA
07/2012
1Tetrahydrofolate Dehydrogenase (Dihydrofolate Reductase)IBA
07/2012
1Methenyltetrahydrofolate CyclohydrolaseIBA
07/2012
1Histone Acetyltransferases (Histone Acetyltransferase)IBA
02/2012
1Proteins (Proteins, Gene)IBA
07/2011
1Marden Walker like syndromeIBA
10/2010
1Carnitine (L-Carnitine)FDA LinkGeneric
12/2009
1AntibodiesIBA
09/2009
1Methylmalonic AcidIBA
09/2009
1intrinsic factor-cobalamin receptorIBA
09/2009
1propionylcarnitineIBA
05/2008
1methionine synthase reductaseIBA
10/2007
1Complementary DNA (cDNA)IBA
10/2007
1cobamamide (adenosylcobalamin)IBA
08/2006
1HaptoglobinsIBA
03/2005
1Vitamin B Complex (B Vitamins)IBA
12/2004
1Histidine (L-Histidine)FDA Link
07/2003
1Formiminoglutamic Acid (FIGLU)IBA
07/2003
1Nonsense Codon (Nonsense Mutation)IBA
05/2003
1mecobalamin (methylcobalamin)IBA
07/2002
15-Methyltetrahydrofolate-Homocysteine S-Methyltransferase (Methyltetrahydrofolate Homocysteine Methyltransferase)IBA
07/2002
1Arakawa syndrome 2IBA
07/2002

Therapy/Procedure

1Complementary Therapies (Alternative Medicine)
07/2011