Sven F Garbade Selected Research

vanillactic acid

9/2020

Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.

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Sven F Garbade Research Topics

Disease

4	Phenylketonurias (Phenylketonuria) 10/2021 - 03/2009
3	Inborn Urea Cycle Disorders 01/2020 - 01/2019
2	Brain Diseases (Brain Disorder) 01/2022 - 01/2021
2	Movement Disorders (Movement Disorder) 01/2021 - 01/2021
2	Diabetic Nephropathies (Diabetic Nephropathy) 07/2020 - 01/2018
2	Intellectual Disability (Idiocy) 01/2019 - 03/2009
2	Metabolic Diseases (Metabolic Disease) 01/2017 - 12/2015
1	Hypoglycemia (Reactive Hypoglycemia) 06/2022
1	Medium chain acyl CoA dehydrogenase deficiency 06/2022
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2022
1	Homocystinuria 01/2022
1	Methylenetetrahydrofolate reductase deficiency 01/2022
1	Neurodevelopmental Disorders 01/2022
1	Rare Diseases (Rare Disease) 11/2021
1	succinic semialdehyde dehydrogenase deficiency 11/2021
1	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 11/2021
1	Methylmalonic acidemia 01/2021
1	Cognitive Dysfunction 01/2021
1	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 01/2021
1	COVID-19 01/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	autosomal recessive Segawa syndrome 01/2021
1	Aromatic amino acid decarboxylase deficiency 09/2020
1	Diabetes Mellitus 07/2020
1	Chronic Renal Insufficiency 07/2020
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2020
1	Liver Failure 01/2020
1	Fabry Disease (Fabry's Disease) 01/2020
1	Pelger-Huet Anomaly 01/2020
1	Optic Atrophy 01/2020
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2020
1	Gaucher Disease (Gaucher's Disease) 01/2020
1	Globoid Cell Leukodystrophy (Krabbe Disease) 10/2019
1	Neuraminidase deficiency with beta-galactosidase deficiency 01/2019
1	Free sialic acid storage disease 01/2019
1	Argininosuccinic Aciduria 01/2019
1	alpha-Mannosidosis 01/2019
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2019
1	Glycoprotein Storage Disease 01/2019
1	Diabetes Complications 01/2018
1	Mucopolysaccharidoses 01/2017
1	Dystonia (Limb Dystonia) 12/2015
1	Chronic Kidney Failure (Chronic Renal Failure) 08/2007
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 08/2007

Drug/Important Bio-Agent (IBA)

7	EnzymesIBA 01/2020 - 01/2017
3	Proteins (Proteins, Gene)FDA Link 01/2022 - 10/2019
3	Neurotransmitter Agents (Neurotransmitter)IBA 11/2021 - 01/2021
3	Ammonium CompoundsIBA 01/2019 - 01/2017
2	Phenylalanine (L-Phenylalanine)FDA Link 10/2021 - 03/2009
2	Methylmalonyl-CoA MutaseIBA 01/2021 - 08/2007
2	CarnosineIBA 07/2020 - 01/2018
2	AnserineIBA 07/2020 - 01/2018
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2020 - 01/2019
1	Fatty Acids (Saturated Fatty Acids)IBA 06/2022
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 06/2022
1	Betaine (C.B.B.)FDA Link 01/2022
1	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 01/2022
1	nusinersenIBA 01/2022
1	HomocysteineIBA 01/2022
1	IronIBA 01/2022
1	Vitamin B 6IBA 01/2022
1	ZolgensmaIBA 01/2022
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2022
1	Oxidoreductases (Dehydrogenase)IBA 01/2022
1	5,10-methylenetetrahydrofolic acidIBA 01/2022
1	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 11/2021
1	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 11/2021
1	Monoamine Oxidase (MAO)IBA 11/2021
1	AntibodiesIBA 01/2021
1	Aromatic-L-Amino-Acid DecarboxylasesIBA 01/2021
1	Vanilmandelic Acid (Vanillylmandelic Acid)IBA 09/2020
1	vanillactic acidIBA 09/2020
1	SodiumIBA 01/2020
1	glycerol phenylbutyrateIBA 01/2020
1	Amino Acids FDA Link 01/2020
1	GalactosylceramidaseIBA 10/2019
1	Cathepsin AIBA 01/2019
1	Urea (Carbamide)FDA LinkGeneric 01/2019
1	Protons (Proton)IBA 01/2019
1	Neuraminidase (Sialidase)IBA 01/2019
1	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 01/2019
1	GalactosidasesIBA 01/2019
1	alpha-Mannosidase (LAMAN)IBA 01/2019
1	Pyruvaldehyde (Methylglyoxal)IBA 01/2018
1	GlucuronidaseIBA 01/2017
1	Glutaryl-CoA DehydrogenaseIBA 12/2015
1	benzoylamido- 4'- aminostilbene- 2,2'- disulfonate (BADS)IBA 12/2015
1	cobamamide (adenosylcobalamin)IBA 08/2007
1	Methylmalonic AcidIBA 08/2007

Therapy/Procedure

6	Therapeutics 01/2022 - 01/2019
2	Enzyme Replacement Therapy 01/2020 - 01/2019
1	Prenatal Care (Care, Prenatal) 01/2021
1	Protein-Restricted Diet (Diet, Protein Restricted) 01/2020