Terttu Suormala Selected Research

5,10-methylenetetrahydrofolic acid

5/2016	Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
6/2015	Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
6/2002	5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency.

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Terttu Suormala Research Topics

Disease

6	Methylmalonic acidemia 01/2017 - 10/2004
5	Homocystinuria 01/2017 - 10/2004
5	Methylenetetrahydrofolate reductase deficiency 01/2017 - 06/2002
4	Hyperhomocysteinemia 01/2017 - 03/2005
3	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 12/2003 - 01/2002
2	Muscle Hypotonia (Hypotonia) 01/2017 - 01/2016
1	Mental Disorders (Mental Disorder) 01/2016
1	Intellectual Disability (Idiocy) 01/2016
1	Spinal Cord Diseases 01/2016
1	Ataxia (Dyssynergia) 01/2016
1	Hydrocephalus (Hydrocephaly) 01/2016
1	Brain Diseases (Brain Disorder) 01/2016
1	Epilepsy (Aura) 01/2016
1	Microcephaly 01/2016
1	Propionic Acidemia 01/2013
1	Methylmalonic acidemia with homocystinuria 07/2009
1	Failure to Thrive 11/2007
1	Down Syndrome (Down's Syndrome) 11/2007
1	Chronic Kidney Failure (Chronic Renal Failure) 08/2007
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 08/2007
1	Seizures (Absence Seizure) 11/2004
1	Glioma (Gliomas) 07/2002
1	Sarcoma (Soft Tissue Sarcoma) 07/2002
1	Neuroblastoma 01/2002
1	Astrocytoma (Pilocytic Astrocytoma) 01/2002

Drug/Important Bio-Agent (IBA)

4	Biotin (Vitamin H)FDA Link 11/2004 - 01/2002
3	HomocysteineIBA 01/2017 - 03/2005
3	5,10-methylenetetrahydrofolic acidIBA 05/2016 - 06/2002
3	Oxidoreductases (Dehydrogenase)IBA 05/2016 - 06/2002
3	Methionine (L-Methionine)FDA Link 01/2016 - 10/2004
3	cobamamide (adenosylcobalamin)IBA 09/2014 - 10/2004
3	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 09/2013 - 07/2009
2	Folic Acid (Vitamin M)FDA LinkGeneric 01/2017 - 06/2015
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2016
1	EnzymesIBA 01/2016
1	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2013
1	CarbonIBA 11/2007
1	Methylmalonic AcidIBA 08/2007
1	Methylmalonyl-CoA MutaseIBA 08/2007
1	hydroxide ionIBA 10/2005
1	methionine synthase reductaseIBA 03/2005
1	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase (Methyltetrahydrofolate Homocysteine Methyltransferase)IBA 03/2005
1	mecobalamin (methylcobalamin)IBA 10/2004
1	BiotinidaseIBA 12/2003
1	biocytinIBA 01/2002

Therapy/Procedure

1	Therapeutics 11/2004