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Sven F Garbade Selected Research

6-pyruvoyltetrahydropterin synthase (PTPS)

11/2021Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

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Sven F Garbade Research Topics

Disease

5Inborn Urea Cycle Disorders
12/2023 - 01/2019
4Methylmalonic acidemia
04/2024 - 01/2021
4Propionic Acidemia
04/2024 - 07/2023
4Phenylketonurias (Phenylketonuria)
10/2021 - 03/2009
3Homocystinuria
04/2024 - 01/2022
3Metabolic Diseases (Metabolic Disease)
01/2024 - 12/2015
3Diabetic Nephropathies (Diabetic Nephropathy)
06/2023 - 01/2018
3COVID-19
01/2023 - 01/2021
2Methylenetetrahydrofolate reductase deficiency
04/2024 - 01/2022
2Argininosuccinic Aciduria
12/2023 - 01/2019
2Ornithine Carbamoyltransferase Deficiency Disease
12/2023 - 01/2019
2Inflammation (Inflammations)
11/2023 - 06/2023
2Vitamin B 12 Deficiency (Vitamin B12 Deficiency)
07/2023 - 01/2021
2Chronic Renal Insufficiency
01/2023 - 07/2020
2Dystonia (Limb Dystonia)
12/2022 - 12/2015
2Brain Diseases (Brain Disorder)
01/2022 - 01/2021
2Movement Disorders (Movement Disorder)
01/2021 - 01/2021
2Intellectual Disability (Idiocy)
01/2019 - 03/2009
1Cystic Fibrosis (Mucoviscidosis)
01/2024
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
01/2024
1VLCAD deficiency
01/2024
1Citrullinemia
12/2023
1Mitochondrial Diseases (Mitochondrial Disease)
11/2023
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency
11/2023
1Fibrosis (Cirrhosis)
06/2023
1Body Weight (Weight, Body)
06/2023
1Reinfection
01/2023
1Kidney Diseases (Kidney Disease)
01/2023
1Infections
01/2023
1Left Ventricular Dysfunction
12/2022
1Neurologic Manifestations (Neurological Manifestations)
12/2022
1Maternal Phenylketonuria
11/2022
1Medium chain acyl CoA dehydrogenase deficiency
06/2022
1Hypoglycemia (Reactive Hypoglycemia)
06/2022
1Neurodevelopmental Disorders
01/2022
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
01/2022
1succinic semialdehyde dehydrogenase deficiency
11/2021
1due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia
11/2021
1Rare Diseases (Rare Disease)
11/2021
1Muscle Hypotonia (Hypotonia)
01/2021
1autosomal recessive Segawa syndrome
01/2021
1Cognitive Dysfunction
01/2021
1Aromatic amino acid decarboxylase deficiency
09/2020

Drug/Important Bio-Agent (IBA)

9EnzymesIBA
12/2023 - 01/2017
5Proteins (Proteins, Gene)FDA Link
12/2023 - 10/2019
4Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
04/2024 - 01/2022
4Neurotransmitter Agents (Neurotransmitter)IBA
12/2022 - 01/2021
3Oxidoreductases (Dehydrogenase)IBA
01/2024 - 01/2022
3CarnosineIBA
06/2023 - 01/2018
3AnserineIBA
06/2023 - 01/2018
3Phenylalanine (L-Phenylalanine)FDA Link
11/2022 - 03/2009
3Ammonium CompoundsIBA
01/2019 - 01/2017
2Vitamin B 6IBA
07/2023 - 01/2022
2Cystathionine beta-Synthase (Serine Sulfhydrase)IBA
07/2023 - 01/2022
2N-(2-cyanoethylene)urea (BA 1)IBA
01/2023 - 01/2023
2Messenger RNA (mRNA)IBA
01/2023 - 01/2023
2Aromatic-L-Amino-Acid DecarboxylasesIBA
12/2022 - 01/2021
2Methylmalonic AcidIBA
11/2022 - 08/2007
2Methylmalonyl-CoA MutaseIBA
01/2021 - 08/2007
2Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
01/2020 - 01/2019
1CystathionineIBA
04/2024
1Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA
04/2024
1Mitochondrial Trifunctional ProteinIBA
01/2024
1Pancreatitis-Associated ProteinsIBA
01/2024
1Carnitine palmitoyl transferase 2 deficiencyIBA
01/2024
1Coenzyme A (CoA)IBA
01/2024
1CitrullineIBA
12/2023
1Arginine (L-Arginine)FDA Link
12/2023
1NitrogenIBA
12/2023
1Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA
11/2023
1Biomarkers (Surrogate Marker)IBA
11/2023
1Malonic aciduriaIBA
11/2023
1Carnitine (L-Carnitine)FDA LinkGeneric
11/2023
1AlbuminsIBA
11/2023
1Advanced Glycation End ProductsIBA
06/2023
14-hydroxy-2-nonenal (4-hydroxynonenal)IBA
06/2023
1Glucose (Dextrose)FDA LinkGeneric
06/2023
1Blood Glucose (Blood Sugar)IBA
06/2023
1Insulin (Novolin)FDA Link
06/2023
1mRNA VaccinesIBA
01/2023
1Dopa DecarboxylaseIBA
12/2022
1Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
06/2022
1Fatty Acids (Saturated Fatty Acids)IBA
06/2022
1ZolgensmaIBA
01/2022
15,10-methylenetetrahydrofolic acidIBA
01/2022
1nusinersenIBA
01/2022
1IronIBA
01/2022
1HomocysteineIBA
01/2022
1Betaine (C.B.B.)FDA Link
01/2022
1Monoamine Oxidase (MAO)IBA
11/2021
1Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA
11/2021
16-pyruvoyltetrahydropterin synthase (PTPS)IBA
11/2021
1AntibodiesIBA
01/2021
1vanillactic acidIBA
09/2020
1Vanilmandelic Acid (Vanillylmandelic Acid)IBA
09/2020

Therapy/Procedure

7Therapeutics
12/2023 - 01/2019
3Liver Transplantation
12/2023 - 12/2022
2Enzyme Replacement Therapy
01/2020 - 01/2019
1Kidney Transplantation
11/2022
1Prenatal Care (Care, Prenatal)
01/2021