Patricie Burda Selected Research

Patricie Burda Research Topics

5	Methylenetetrahydrofolate reductase deficiency 01/2021 - 06/2015
4	Methylmalonic acidemia 01/2017 - 03/2012
3	Homocystinuria 01/2017 - 03/2012
2	Congenital Disorders of Glycosylation 07/2018 - 02/2014
2	Muscle Hypotonia (Hypotonia) 01/2017 - 01/2016
2	Hyperhomocysteinemia 01/2017 - 05/2016
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 06/2016 - 07/2015
1	Diseases Newborn Infant 01/2021
1	Mucopolysaccharidosis II (Hunter Syndrome) 02/2020
1	Muscle Weakness 01/2020
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 01/2020
1	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2017
1	Non-alcoholic Fatty Liver Disease 10/2016
1	Disease Progression 01/2016
1	Ataxia (Dyssynergia) 01/2016
1	Mental Disorders (Mental Disorder) 01/2016
1	Brain Diseases (Brain Disorder) 01/2016
1	Coma (Comas) 01/2016
1	Epilepsy (Aura) 01/2016
1	Failure to Thrive 01/2016
1	Hydrocephalus (Hydrocephaly) 01/2016
1	Intellectual Disability (Idiocy) 01/2016
1	Microcephaly 01/2016
1	Spinal Cord Diseases 01/2016
1	Weight Loss (Weight Reduction) 01/2016
1	Muscular Diseases (Myopathy) 07/2015
1	Liver Diseases (Liver Disease) 07/2015
1	Niemann-Pick Diseases (Niemann Pick Disease) 06/2015
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 11/2014

3	5,10-methylenetetrahydrofolic acidIBA 01/2021 - 06/2015
3	Oxidoreductases (Dehydrogenase)IBA 01/2021 - 06/2015
3	Biomarkers (Surrogate Marker)IBA 10/2016 - 06/2015
2	Transferrin (beta 2 Transferrin)IBA 07/2018 - 10/2016
2	HomocysteineIBA 01/2017 - 01/2016
2	Folic Acid (Vitamin M)FDA LinkGeneric 01/2017 - 06/2015
2	Proteins (Proteins, Gene)FDA Link 10/2016 - 07/2015
1	Biological ProductsIBA 01/2021
1	Iduronic Acid (Iduronate)IBA 02/2020
1	Biotin (Vitamin H)FDA Link 01/2020
1	(5aR)-5a-C-pentyl-4-epi-isofagomineIBA 01/2017
1	GalactosidasesIBA 01/2017
1	Pharmaceutical PreparationsIBA 01/2017
1	isofagomineIBA 01/2017
1	Blood Proteins (Serum Proteins)IBA 10/2016
1	HaptoglobinsIBA 10/2016
1	propionylcarnitineIBA 01/2016
1	AmmoniaIBA 01/2016
1	EnzymesIBA 01/2016
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2016
1	Hydroxocobalamin FDA Link 01/2016
1	Methionine (L-Methionine)FDA Link 01/2016
1	Methylmalonic AcidIBA 01/2016
1	Methylmalonyl-CoA MutaseIBA 01/2016
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2016
1	GlycogenIBA 07/2015
1	OxysterolsIBA 06/2015
1	CholesterolIBA 11/2014
1	cobamamide (adenosylcobalamin)IBA 09/2014
1	Glycoproteins (Glycoprotein)IBA 02/2014
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 03/2012

2	Therapeutics 01/2020 - 06/2016
1	High-Protein Diet 01/2016