Matthias R Baumgartner Selected Research

Glycogen Storage Disease Type I

1/2019	Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.
1/2018	Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control.
11/2015	Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study.

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Matthias R Baumgartner Research Topics

Disease

16	Methylmalonic acidemia 07/2022 - 10/2004
9	Methylenetetrahydrofolate reductase deficiency 01/2022 - 06/2015
8	Homocystinuria 01/2022 - 10/2004
6	Propionic Acidemia 11/2021 - 01/2013
4	Hyperhomocysteinemia 01/2020 - 09/2013
4	Muscle Hypotonia (Hypotonia) 01/2017 - 07/2005
3	Inborn Urea Cycle Disorders 01/2020 - 01/2014
3	Phenylketonurias (Phenylketonuria) 11/2019 - 03/2008
3	Glycogen Storage Disease Type I 01/2019 - 11/2015
3	Inborn Errors Metabolism (Inborn Errors of Metabolism) 06/2016 - 08/2007
3	Failure to Thrive 01/2016 - 11/2007
2	Adenoma (Adenomas) 01/2022 - 01/2019
2	Mitochondrial Diseases (Mitochondrial Disease) 04/2020 - 01/2020
2	Argininosuccinic Aciduria 01/2019 - 11/2015
2	Intellectual Disability (Idiocy) 01/2019 - 01/2016
2	Ornithine Carbamoyltransferase Deficiency Disease 03/2016 - 11/2015
2	Hyperammonemia 01/2016 - 09/2012
2	Lactic Acidosis 07/2014 - 02/2012
2	Seizures (Absence Seizure) 05/2014 - 11/2004
2	Cataract (Cataracts) 02/2012 - 01/2005
1	Hypoxia (Hypoxemia) 01/2022
1	Cognitive Dysfunction 01/2021
1	Metabolic Diseases (Metabolic Disease) 01/2021
1	Lens Subluxation 01/2021
1	Muscle Weakness 01/2020
1	Stroke (Strokes) 12/2019
1	Renal Insufficiency (Renal Failure) 12/2019
1	Galactosemias (Galactosemia) 11/2019
1	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 01/2019
1	Hypoglycemia (Reactive Hypoglycemia) 01/2019
1	Fatigue 01/2017
1	Thrombosis (Thrombus) 01/2017
1	Atypical Hemolytic Uremic Syndrome 08/2016
1	Hemolytic-Uremic Syndrome 08/2016
1	Late Onset Disorders 03/2016
1	Coma (Comas) 01/2016
1	Mental Disorders (Mental Disorder) 01/2016
1	Brain Diseases (Brain Disorder) 01/2016
1	Hydrocephalus (Hydrocephaly) 01/2016
1	Disease Progression 01/2016
1	Weight Loss (Weight Reduction) 01/2016

Drug/Important Bio-Agent (IBA)

10	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2022 - 07/2009
9	Methylmalonyl-CoA MutaseIBA 01/2021 - 08/2007
8	EnzymesIBA 11/2021 - 07/2004
6	Oxidoreductases (Dehydrogenase)IBA 01/2022 - 09/2012
5	HomocysteineIBA 01/2022 - 11/2014
4	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 11/2021 - 01/2013
4	Proteins (Proteins, Gene)FDA Link 11/2021 - 07/2005
4	Methylmalonic AcidIBA 01/2017 - 08/2007
3	PropionatesIBA 07/2022 - 01/2016
3	Betaine (C.B.B.)FDA Link 01/2022 - 11/2015
3	5,10-methylenetetrahydrofolic acidIBA 01/2022 - 06/2015
3	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2021 - 05/2014
3	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2020 - 01/2016
3	Folic Acid (Vitamin M)FDA LinkGeneric 01/2017 - 01/2013
3	AmmoniaIBA 01/2016 - 01/2014
3	Methionine (L-Methionine)FDA Link 01/2016 - 10/2004
3	Biomarkers (Surrogate Marker)IBA 01/2016 - 06/2015
3	cobamamide (adenosylcobalamin)IBA 09/2014 - 10/2004
2	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 01/2022 - 11/2015
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2022 - 07/2005
2	Lysine (L-Lysine)FDA Link 01/2021 - 04/2013
2	propionylcarnitineIBA 01/2017 - 01/2016
2	Amino Acids FDA Link 01/2017 - 07/2004
2	Hydroxocobalamin FDA Link 03/2016 - 01/2016
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2016 - 07/2004
2	Ligases (Synthetase)IBA 11/2015 - 01/2013
2	3-methylcrotonyl CoA carboxylase 1 deficiencyIBA 08/2015 - 03/2008
2	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 07/2014 - 07/2005
2	Biotin (Vitamin H)FDA Link 01/2013 - 11/2004
2	Proline (L-Proline)FDA Link 09/2012 - 01/2005
2	CitrullineIBA 09/2012 - 01/2005
2	OrnithineIBA 09/2012 - 01/2005
2	Arginine (L-Arginine)FDA Link 09/2012 - 01/2005
1	MicroRNAs (MicroRNA)IBA 01/2022
1	Transcription Factors (Transcription Factor)IBA 01/2022
1	Triglycerides (Triacylglycerol)IBA 01/2022
1	Oxygen (Dioxygen)IBA 01/2022
1	Vitamin B 6IBA 01/2022
1	CystathionineIBA 01/2021
1	Pharmaceutical PreparationsIBA 01/2020
1	glycerol phenylbutyrateIBA 01/2020
1	SodiumIBA 01/2020
1	methylmalonyl-coenzyme A (methylmalonyl CoA)IBA 01/2020
1	Urea (Carbamide)FDA LinkGeneric 11/2019
1	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 01/2019
1	Methylenetetrahydrofolate Dehydrogenase (NADP) (Dehydrogenase, Methylenetetrahydrofolate)IBA 01/2019
1	Methionine AdenosyltransferaseIBA 01/2019
1	CarbohydratesIBA 01/2019
1	Ammonium CompoundsIBA 01/2019
1	Glucose (Dextrose)FDA LinkGeneric 01/2019
1	Blood Glucose (Blood Sugar)IBA 01/2019
1	SphingolipidsIBA 01/2018
1	2-methylcitric acidIBA 01/2017
1	hydracrylic acidIBA 01/2017
1	A-factor (Streptomyces)IBA 03/2016

Therapy/Procedure

7	Therapeutics 01/2021 - 11/2004
2	Glycemic Control 01/2019 - 11/2015
1	Protein-Restricted Diet (Diet, Protein Restricted) 01/2020
1	Diet Therapy (Therapy, Diet) 01/2017