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Patricie Burda Selected Research

Cholesterol

11/2014Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

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Patricie Burda Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

3Oxidoreductases (Dehydrogenase)IBA
01/2021 - 06/2015
35,10-methylenetetrahydrofolic acidIBA
01/2021 - 06/2015
3Biomarkers (Surrogate Marker)IBA
10/2016 - 06/2015
2Transferrin (beta 2 Transferrin)IBA
07/2018 - 10/2016
2Folic Acid (Vitamin M)FDA LinkGeneric
01/2017 - 06/2015
2HomocysteineIBA
01/2017 - 01/2016
2Proteins (Proteins, Gene)FDA Link
10/2016 - 07/2015
1Iduronic Acid (Iduronate)IBA
02/2020
1Biotin (Vitamin H)FDA Link
01/2020
1isofagomineIBA
01/2017
1(5aR)-5a-C-pentyl-4-epi-isofagomineIBA
01/2017
1GalactosidasesIBA
01/2017
1HaptoglobinsIBA
10/2016
1Blood Proteins (Serum Proteins)IBA
10/2016
1propionylcarnitineIBA
01/2016
1AmmoniaIBA
01/2016
1EnzymesIBA
01/2016
1Fatty Acids (Saturated Fatty Acids)IBA
01/2016
1HydroxocobalaminFDA Link
01/2016
1Methionine (L-Methionine)FDA Link
01/2016
1Methylmalonic AcidIBA
01/2016
1Methylmalonyl-CoA MutaseIBA
01/2016
1Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA
01/2016
1GlycogenIBA
07/2015
1OxysterolsIBA
06/2015
1CholesterolIBA
11/2014
1cobamamide (adenosylcobalamin)IBA
09/2014
1Glycoproteins (Glycoprotein)IBA
02/2014
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
03/2012

Therapy/Procedure

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