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Nenad Blau Selected Research

Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)

3/2015Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.
7/2013Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.
4/2012Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
9/2011Tetrahydrobiopterin: biochemistry and pathophysiology.
7/2011The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response.
2/2011Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
7/2009Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
4/2009Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.
1/2008Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
3/2003Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene.

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Nenad Blau Research Topics

Disease

35Phenylketonurias (Phenylketonuria)
04/2015 - 02/2002
7Dystonia (Limb Dystonia)
04/2015 - 02/2006
5Muscle Hypotonia (Hypotonia)
04/2015 - 02/2006
5Movement Disorders (Movement Disorder)
01/2015 - 05/2006
3Mental Retardation (Idiocy)
04/2015 - 02/2006
3Parkinsonian Disorders (Parkinsonism)
01/2015 - 08/2005
3Epilepsy (Aura)
11/2012 - 08/2003
3Seizures (Seizure)
11/2011 - 08/2003
2Nephrolithiasis
09/2010 - 02/2004
2Hyperoxaluria
09/2010 - 07/2008
2Infection
10/2007 - 06/2006
2Thrombosis (Thrombus)
07/2007 - 11/2004
2Body Weight (Weight, Body)
06/2007 - 01/2004
2Insulin Resistance
06/2006 - 02/2003
2Inflammation
06/2006 - 11/2004
2Dyskinesias (Dyskinesia)
02/2006 - 07/2005
2Paraplegia (Spastic Paraplegia)
08/2005 - 04/2005
1Neurologic Manifestations (Neurological Manifestations)
04/2015
1Hypothyroidism
01/2015
1Cerebral Palsy (Spastic Diplegia)
04/2012
1Hypokinesia (Bradykinesia)
04/2012
1Pain (Aches)
09/2011
1Hypertension (High Blood Pressure)
09/2011
1Reperfusion Injury
09/2011
1Autistic Disorder (Autism)
03/2011
1Absence Epilepsy (Absence Seizure)
02/2011
1Megaloblastic Anemia
02/2011
1Primary Hyperoxaluria (Oxaluria, Primary)
09/2010
1Nephrocalcinosis
09/2010
1Calculi (Calculus)
09/2010
1Chronic Kidney Failure (Chronic Renal Failure)
09/2010
1Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
01/2010
1Schizophrenia (Dementia Praecox)
07/2008
1Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder)
07/2008
1Hearing Loss (Hearing Impairment)
07/2008
1Acidosis
07/2008
1Renal Tubular Acidosis (Distal Renal Tubular Acidosis)
07/2008
1Disorders of Excessive Somnolence (Hypersomnia)
12/2006
1Dystonic Disorders (Writer's Cramp)
09/2006
1Parkinson Disease (Parkinson's Disease)
05/2006
1Weight Gain
12/2005
1Nervous System Diseases (Neurological Disorders)
05/2005
1Kearns-Sayre Syndrome
12/2004
1Rett Syndrome (Rett's Disorder)
12/2004
1Hypotension (Low Blood Pressure)
11/2004
1Failure to Thrive
02/2004

Drug/Important Bio-Agent (IBA)

245,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin)FDA Link
03/2015 - 02/2002
14Phenylalanine (L-Phenylalanine)FDA Link
04/2015 - 12/2002
10Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
03/2015 - 03/2003
6Levodopa (L Dopa)FDA LinkGeneric
04/2012 - 08/2005
5Neurotransmitter Agents (Neurotransmitter)IBA
04/2015 - 07/2003
4sepiapterin reductaseIBA
01/2015 - 12/2006
4Folic Acid (Vitamin M)FDA LinkGeneric
11/2011 - 05/2005
3Dihydroxyphenylalanine (Dopa)IBA
01/2015 - 09/2006
3Nitric Oxide (Nitrogen Monoxide)FDA Link
07/2007 - 02/2003
2Dopamine (Intropin)FDA LinkGeneric
01/2015 - 07/2003
2BiopterinIBA
11/2012 - 01/2004
2PterinsIBA
11/2012 - 08/2003
2Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA
04/2012 - 06/2010
2tebufenozide (Mimic)IBA
04/2012 - 10/2007
2Leucovorin (Folinic Acid)FDA Link
11/2011 - 04/2005
2EnzymesIBA
09/2011 - 07/2008
2DHPR deficiencyIBA
01/2011 - 12/2004
2Calcium OxalateIBA
09/2010 - 11/2003
2CytokinesIBA
01/2010 - 11/2004
1Aromatic Amino Acids (Aromatic Amino Acid)IBA
04/2015
1Growth Hormone (Somatotropin)IBA
01/2015
1NeopterinIBA
11/2012
1primapterinIBA
11/2012
1Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA
11/2011
1Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)IBA
11/2011
1PyridoxalIBA
11/2011
1OxygenIBA
09/2011
1Serotonin Plasma Membrane Transport Proteins (Serotonin Transporter)IBA
03/2011
1Serotonin (5 Hydroxytryptamine)IBA
03/2011
1Tetrahydrofolate Dehydrogenase (Dihydrofolate Reductase)IBA
02/2011
1Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA
01/2011
1AutoantibodiesIBA
01/2010
1Tyrosine (L-Tyrosine)FDA Link
04/2009
1Genetic Markers (Genetic Marker)IBA
07/2008
1PotassiumIBA
07/2008
1dirhodium tetraacetate (DRTA)IBA
07/2008
1AlkaliesIBA
07/2008
1Aicardi-Goutieres syndromeIBA
10/2007
1Valine (L-Valine)FDA Link
09/2006
1Isoleucine (L-Isoleucine)FDA Link
09/2006
1Messenger RNA (mRNA)IBA
06/2006
1GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA
05/2006
1Dopa-responsive DystoniaIBA
05/2006
16-pyruvoyltetrahydropterin synthase (PTPS)IBA
02/2006
15-methyltetrahydrofolateIBA
04/2005
1Phosphoglycerate Dehydrogenase (Dehydrogenase, Phosphoglycerate)IBA
12/2004
1Anticonvulsants (Antiepileptic Drugs)IBA
12/2004
1Aromatic amino acid decarboxylase deficiencyIBA
12/2004
1Protein CIBA
11/2004
1Galactose (Galactopyranose)FDA LinkGeneric
02/2004

Therapy/Procedure

2Sublingual Administration
06/2005 - 01/2004
1Complementary Therapies (Alternative Medicine)
04/2015
1Kidney Transplantation
09/2010
1Protein-Restricted Diet (Diet, Protein Restricted)
12/2005