Nenad Blau Selected Research

Inborn Errors Metabolism (Inborn Errors of Metabolism)

11/2018	Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
1/2018	Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.

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Nenad Blau Research Topics

Disease

61	Phenylketonurias (Phenylketonuria) 01/2022 - 01/2002
9	Dystonia (Limb Dystonia) 12/2022 - 02/2006
7	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 01/2021 - 02/2002
7	B BH4-Deficient Hyperphenylalaninemia 01/2021 - 12/2005
6	6-pyruvoyl-tetrahydropterin synthase deficiency 09/2020 - 12/2005
6	Intellectual Disability (Idiocy) 01/2019 - 11/2012
5	Seizures (Absence Seizure) 01/2021 - 08/2003
5	Parkinsonian Disorders (Parkinsonism) 01/2019 - 08/2005
5	Movement Disorders (Movement Disorder) 01/2019 - 12/2006
5	Muscle Hypotonia (Hypotonia) 04/2015 - 02/2006
5	Dopa-responsive Dystonia 03/2013 - 09/2004
4	Epilepsy (Aura) 11/2023 - 08/2003
4	Aromatic amino acid decarboxylase deficiency 01/2021 - 12/2004
4	Brain Diseases (Brain Disorder) 04/2012 - 08/2005
3	Neurologic Manifestations (Neurological Manifestations) 12/2022 - 11/2013
3	Metabolic Diseases (Metabolic Disease) 01/2022 - 10/2016
3	Body Weight (Weight, Body) 03/2016 - 01/2004
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2023 - 12/2016
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 11/2018 - 01/2018
2	Parkinson Disease (Parkinson's Disease) 10/2017 - 05/2006
2	Hyperoxaluria (Oxaluria) 09/2010 - 07/2008
2	Thrombosis (Thrombus) 07/2007 - 11/2004
2	Inflammation (Inflammations) 06/2006 - 11/2004
2	Insulin Resistance 06/2006 - 02/2003
2	Paraplegia (Spastic Paraplegia) 08/2005 - 04/2005
2	Mental Disorders (Mental Disorder) 07/2003 - 03/2002
1	Liver Cell Adenoma (Hepatocellular Adenoma) 01/2022
1	Tyrosinemias (Tyrosinemia) 01/2022
1	Hepatocellular Carcinoma (Hepatoma) 01/2022
1	Neoplasms (Cancer) 01/2022
1	Hypopigmentation (Hypomelanosis) 01/2021
1	Methylenetetrahydrofolate reductase deficiency 01/2020
1	Guanidinoacetate methyltransferase deficiency 01/2020
1	Gyrate Atrophy 01/2020
1	Atrophy 01/2019
1	Liver Diseases (Liver Disease) 01/2019
1	Obesity 03/2016
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 03/2016
1	Abdominal Obesity 03/2016
1	Vascular Diseases (Vascular Disease) 03/2016
1	Hypothyroidism 01/2015
1	Motor Disorders 04/2012
1	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 11/2011

Drug/Important Bio-Agent (IBA)

35	sapropterin (tetrahydrobiopterin)FDA Link 01/2021 - 02/2002
28	Phenylalanine (L-Phenylalanine)FDA Link 10/2021 - 12/2002
27	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2022 - 03/2003
13	Neurotransmitter Agents (Neurotransmitter)IBA 12/2022 - 07/2003
11	Levodopa (L Dopa)FDA LinkGeneric 01/2021 - 08/2005
10	EnzymesIBA 12/2022 - 07/2008
9	Dopamine (Intropin)FDA LinkGeneric 01/2023 - 07/2003
8	Serotonin (5 Hydroxytryptamine)IBA 01/2023 - 03/2011
7	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 01/2021 - 02/2006
6	Amino Acids FDA Link 01/2021 - 08/2003
6	BiopterinsIBA 07/2017 - 03/2002
5	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 01/2021 - 05/2006
5	Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA 01/2021 - 03/2008
5	Folic Acid (Vitamin M)FDA LinkGeneric 01/2020 - 05/2005
5	PterinsIBA 11/2012 - 08/2003
4	sepiapterin reductaseIBA 01/2021 - 09/2004
4	Dihydroxyphenylalanine (Dopa)IBA 10/2017 - 09/2006
4	Leucovorin (Folinic Acid)FDA Link 09/2016 - 04/2005
4	Nitric Oxide (Nitrogen Monoxide)FDA Link 07/2007 - 01/2002
3	Aromatic-L-Amino-Acid DecarboxylasesIBA 01/2023 - 04/2015
3	Biogenic Amines (Biogenic Amine)IBA 09/2020 - 01/2019
3	Tyrosine (L-Tyrosine)FDA Link 01/2019 - 04/2009
3	NeopterinIBA 07/2017 - 06/2011
3	CytokinesIBA 01/2010 - 02/2003
2	Norepinephrine (Noradrenaline)FDA LinkGeneric 01/2023 - 01/2017
2	Epinephrine (Adrenaline)FDA LinkGeneric 01/2023 - 01/2017
2	CatecholaminesIBA 04/2019 - 06/2010
2	Proteins (Proteins, Gene)FDA Link 04/2019 - 06/2010
2	sepiapterinIBA 01/2019 - 02/2002
2	Mixed Function Oxygenases (Monooxygenases)IBA 01/2019 - 09/2013
2	Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA 04/2012 - 10/2007
2	AcidsIBA 03/2011 - 06/2010
2	Calcium OxalateIBA 09/2010 - 11/2003
2	Homovanillic AcidIBA 06/2010 - 10/2007
2	Anticonvulsants (Antiepileptic Drugs)IBA 12/2004 - 08/2003
1	MineralsIBA 11/2023
1	Dopa DecarboxylaseIBA 12/2022
1	Long Noncoding RNAIBA 01/2022
1	GlycogenIBA 01/2022
1	3-methoxytyrosineIBA 01/2021
1	Hydroxyindoleacetic AcidIBA 01/2019
1	ClathrinIBA 01/2019
1	Tryptophan (L-Tryptophan)FDA Link 01/2019
1	5-Hydroxytryptophan (5 Hydroxytryptophan)IBA 01/2019
1	Adenosine Monophosphate (AMP)IBA 11/2018
1	dextran-2-hydroxy-3-mercaptopropyl ether (C 79)IBA 10/2017
1	endodeoxyribonuclease FokIIBA 10/2016
1	RNA (Ribonucleic Acid)IBA 10/2016
1	Growth Hormone (Somatotropin)IBA 01/2015
1	primapterinIBA 11/2012
1	Folate Receptor 1IBA 11/2011
1	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 11/2011

Therapy/Procedure

9	Therapeutics 01/2018 - 12/2005
2	Sublingual Administration 06/2005 - 01/2004
1	Liver Transplantation 01/2019
1	Precision Medicine 10/2016
1	Complementary Therapies (Alternative Medicine) 04/2015