Martina Huemer Selected Research

5,10-methylenetetrahydrofolic acid

1/2022	Postauthorization safety study of betaine anhydrous.
1/2021	Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
5/2016	Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

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Martina Huemer Research Topics

Disease

9	Methylenetetrahydrofolate reductase deficiency 01/2022 - 11/2015
6	Homocystinuria 01/2022 - 11/2015
5	Inborn Urea Cycle Disorders 11/2019 - 05/2012
4	Muscle Hypotonia (Hypotonia) 01/2019 - 04/2010
4	Hyperhomocysteinemia 05/2016 - 01/2005
3	Phenylketonurias (Phenylketonuria) 01/2021 - 05/2008
3	Intellectual Disability (Idiocy) 11/2019 - 01/2016
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 10/2020 - 09/2014
2	Glycogen Storage Disease Type II (Pompe's Disease) 02/2020 - 01/2015
2	Hyperammonemia 11/2019 - 01/2018
2	Inborn Genetic Diseases (Disease, Hereditary) 11/2019 - 01/2019
2	Brain Diseases (Brain Disorder) 01/2019 - 01/2016
2	Lactic Acidosis 01/2019 - 04/2010
2	Failure to Thrive 01/2019 - 01/2015
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2019 - 04/2010
2	Hypersensitivity (Allergy) 01/2015 - 10/2002
2	Methylmalonic acidemia 11/2014 - 10/2005
2	Neoplasms (Cancer) 08/2014 - 10/2002
2	Mitochondrial Diseases (Mitochondrial Disease) 09/2013 - 04/2010
2	Cardiovascular Diseases (Cardiovascular Disease) 12/2006 - 01/2005
1	Anemia 01/2022
1	Glycogen Storage Disease IB 01/2022
1	Glycogen Storage Disease (Glycogenosis) 01/2022
1	Neutropenia 01/2022
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2022
1	Hypoglycemia (Reactive Hypoglycemia) 01/2022
1	Reinfection 01/2022
1	Abscess 01/2022
1	Arts syndrome 03/2021
1	Diseases Newborn Infant 01/2021
1	Lens Subluxation 01/2021
1	Muscular Diseases (Myopathy) 02/2020
1	Galactosemias (Galactosemia) 11/2019
1	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 01/2019
1	Fatigue 01/2017
1	Thrombosis (Thrombus) 01/2017
1	Thromboembolism 01/2017
1	Late Onset Disorders 03/2016
1	Ataxia (Dyssynergia) 01/2016
1	Epilepsy (Aura) 01/2016
1	Mental Disorders (Mental Disorder) 01/2016
1	Spinal Cord Diseases 01/2016
1	Microcephaly 01/2016
1	Hydrocephalus (Hydrocephaly) 01/2016
1	Hyperargininemia 01/2016
1	Acidosis 09/2015
1	Gastroesophageal Reflux (GERD) 01/2015
1	Hearing Loss (Hearing Impairment) 01/2015
1	Pneumonia (Pneumonitis) 01/2015
1	Cardiomegaly (Heart Hypertrophy) 01/2015
1	Congenital Abnormalities (Deformity) 01/2015
1	Propionic Acidemia 09/2014
1	Adenoma (Adenomas) 08/2014

Drug/Important Bio-Agent (IBA)

11	HomocysteineIBA 01/2022 - 01/2005
9	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2022 - 01/2005
5	EnzymesIBA 01/2021 - 05/2012
4	Methionine (L-Methionine)FDA Link 01/2022 - 11/2014
4	Folic Acid (Vitamin M)FDA LinkGeneric 09/2009 - 01/2005
3	5,10-methylenetetrahydrofolic acidIBA 01/2022 - 05/2016
3	Oxidoreductases (Dehydrogenase)IBA 01/2022 - 05/2016
3	Betaine (C.B.B.)FDA Link 01/2022 - 11/2015
3	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 01/2022 - 11/2015
3	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2021 - 11/2015
3	Lactic Acid (Lactate)FDA LinkGeneric 01/2019 - 04/2010
3	AmmoniaIBA 01/2018 - 05/2012
2	CystathionineIBA 01/2021 - 01/2017
2	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2019 - 01/2016
2	Arginine (L-Arginine)FDA Link 01/2016 - 05/2012
1	Pharmaceutical PreparationsIBA 01/2022
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/2022
1	Vitamin B 6IBA 01/2022
1	empagliflozinIBA 01/2022
1	S-Adenosylmethionine (Ademetionine)IBA 03/2021
1	nicotinamide-beta-ribosideIBA 03/2021
1	Biological ProductsIBA 01/2021
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2021
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021
1	GlucosidasesIBA 02/2020
1	Urea (Carbamide)FDA LinkGeneric 11/2019
1	glycerol phenylbutyrateIBA 11/2019
1	Ribosomal Proteins (Ribosomal Protein)IBA 01/2019
1	Mitochondrial DNA (mtDNA)IBA 01/2019
1	Methionine AdenosyltransferaseIBA 01/2019
1	Methylenetetrahydrofolate Dehydrogenase (NADP) (Dehydrogenase, Methylenetetrahydrofolate)IBA 01/2019
1	Messenger RNA (mRNA)IBA 01/2019
1	Hydroxocobalamin FDA Link 03/2016
1	NitratesIBA 01/2016
1	NitritesIBA 01/2016
1	Nitric Oxide Synthase (NO Synthase)IBA 01/2016
1	Proteins (Proteins, Gene)FDA Link 01/2016
1	ArginaseIBA 01/2016
1	Creatine Kinase (Creatine Phosphokinase)IBA 09/2015
1	Methylmalonic AcidIBA 09/2014
1	Methylmalonyl-CoA MutaseIBA 09/2014
1	propionic acid (potassium propionate)IBA 09/2014
1	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 09/2014

Therapy/Procedure

5	Therapeutics 01/2022 - 10/2002
2	Enzyme Replacement Therapy 01/2015 - 04/2013
1	Diet Therapy (Therapy, Diet) 01/2017
1	Anesthesia 01/2015