Beat Thöny Selected Research

Aromatic amino acid decarboxylase deficiency

11/2016

A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.

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Beat Thöny Research Topics

Disease

41	Phenylketonurias (Phenylketonuria) 10/2022 - 01/2002
6	Body Weight (Weight, Body) 01/2022 - 01/2004
6	Dystonia (Limb Dystonia) 01/2021 - 09/2006
5	Liver Diseases (Liver Disease) 01/2022 - 09/2014
5	B BH4-Deficient Hyperphenylalaninemia 05/2021 - 12/2005
5	6-pyruvoyl-tetrahydropterin synthase deficiency 05/2021 - 12/2005
5	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 01/2021 - 02/2002
4	Ornithine Carbamoyltransferase Deficiency Disease 01/2021 - 01/2015
3	Hyperammonemia 11/2019 - 01/2017
3	Homocystinuria 01/2019 - 01/2019
3	Brain Diseases (Brain Disorder) 10/2015 - 11/2006
2	Inflammation (Inflammations) 01/2022 - 01/2021
2	Schizophrenia (Dementia Praecox) 01/2021 - 07/2008
2	autosomal recessive Segawa syndrome 05/2020 - 10/2015
2	Autistic Disorder (Autism) 01/2020 - 03/2011
2	Inborn Urea Cycle Disorders 01/2018 - 01/2015
2	Epilepsy (Aura) 09/2016 - 11/2011
2	Movement Disorders (Movement Disorder) 10/2015 - 08/2008
2	Dopa-responsive Dystonia 10/2015 - 09/2006
2	Parkinsonian Disorders (Parkinsonism) 10/2015 - 07/2008
2	Metabolic Diseases (Metabolic Disease) 09/2014 - 09/2011
2	Muscle Hypotonia (Hypotonia) 04/2012 - 09/2006
1	Neurologic Manifestations (Neurological Manifestations) 09/2021
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 11/2020
1	Neoplasms (Cancer) 09/2020
1	Neural Tube Defects (Exencephaly) 01/2020
1	Thrombosis (Thrombus) 01/2019
1	Osteoporosis 01/2019
1	Acute Liver Failure (Fulminant Hepatic Failure) 01/2018
1	Cognitive Dysfunction 01/2018
1	Intellectual Disability (Idiocy) 08/2017
1	Aromatic amino acid decarboxylase deficiency 11/2016
1	Obesity 03/2016
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 03/2016
1	Abdominal Obesity 03/2016
1	Vascular Diseases (Vascular Disease) 03/2016

Drug/Important Bio-Agent (IBA)

19	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2022 - 12/2005
17	sapropterin (tetrahydrobiopterin)FDA Link 09/2021 - 01/2004
15	Phenylalanine (L-Phenylalanine)FDA Link 01/2022 - 11/2004
14	Neurotransmitter Agents (Neurotransmitter)IBA 10/2022 - 09/2006
8	Serotonin (5 Hydroxytryptamine)IBA 01/2020 - 03/2011
7	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 10/2022 - 06/2011
7	Levodopa (L Dopa)FDA LinkGeneric 01/2021 - 09/2006
5	DNA (Deoxyribonucleic Acid)IBA 09/2020 - 09/2014
5	Dopamine (Intropin)FDA LinkGeneric 04/2019 - 01/2016
4	BiopterinsIBA 01/2021 - 01/2004
4	AmmoniaIBA 01/2021 - 01/2017
4	Proteins (Proteins, Gene)FDA Link 09/2020 - 10/2012
3	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 05/2021 - 01/2017
3	sepiapterin reductaseIBA 05/2021 - 09/2011
3	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 01/2021 - 01/2011
3	Folic Acid (Vitamin M)FDA LinkGeneric 01/2020 - 11/2011
3	EnzymesIBA 09/2011 - 11/2004
3	PterinsIBA 11/2006 - 12/2005
2	NeopterinIBA 01/2021 - 06/2011
2	Folate Receptor 1IBA 01/2020 - 11/2011
2	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 11/2019 - 01/2015
2	CatecholaminesIBA 04/2019 - 10/2015
2	CystathionineIBA 01/2019 - 01/2019
2	Urea (Carbamide)FDA LinkGeneric 01/2018 - 01/2017
2	Leucovorin (Folinic Acid)FDA Link 09/2016 - 11/2011
2	tetrahydropterinIBA 01/2016 - 06/2011
2	Tyrosine (L-Tyrosine)FDA Link 01/2016 - 10/2012
2	RNA Splice SitesIBA 01/2015 - 09/2014
2	AcidsIBA 01/2014 - 03/2011
1	pegvaliaseIBA 01/2022
1	CytidineIBA 01/2021
1	Blood Proteins (Serum Proteins)IBA 01/2021
1	Ceruloplasmin (Ferroxidase)IBA 01/2020
1	Amino Acids FDA Link 01/2020
1	AntioxidantsIBA 01/2020
1	AutoantibodiesIBA 01/2020
1	CopperIBA 01/2020
1	Guanosine Triphosphate (GTP)IBA 01/2020
1	Sulfhydryl Compounds (Thiols)IBA 01/2020
1	Superoxide DismutaseIBA 01/2020
1	VitaminsIBA 01/2020
1	ZincIBA 01/2020
1	Biomarkers (Surrogate Marker)IBA 01/2020
1	Orotic AcidIBA 11/2019
1	HomocysteineIBA 01/2019
1	Methionine (L-Methionine)FDA Link 01/2019
1	Cystathionine beta-Synthase (Serine Sulfhydrase)IBA 01/2019
1	TOR Serine-Threonine KinasesIBA 01/2018
1	Transcription Factors (Transcription Factor)IBA 01/2018
1	Sirolimus (Rapamycin)FDA Link 01/2018
1	Indicators and Reagents (Reagents)IBA 01/2017
1	pterin-4a-carbinolamine dehydrataseIBA 01/2017
1	Monoamine Oxidase (MAO)IBA 11/2016
1	Tryptophan (L-Tryptophan)FDA Link 01/2016
1	Ascorbic Acid (Vitamin C)FDA LinkGeneric 01/2016
1	Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA 10/2015
1	NucleotidesIBA 01/2015
1	Antisense OligonucleotidesIBA 09/2014
1	Nucleic AcidsIBA 09/2014

Therapy/Procedure

18	Therapeutics 01/2022 - 01/2004
2	Diet Therapy (Therapy, Diet) 12/2010 - 01/2004
2	Sublingual Administration 06/2005 - 01/2004
1	Lenses 01/2019
1	Injections 01/2017