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William L Nyhan Selected Research

Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)

1/2020Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
11/2017Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
7/2017Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
2/2017Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
8/2016Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
7/2015Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.
1/2015Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
1/2013Identification of novel mutations in the human HPRT gene.
8/2012Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
1/2012Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.
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William L Nyhan Research Topics

Disease

18Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
01/2020 - 07/2003
3Gout
10/2010 - 03/2005
2Alzheimer Disease (Alzheimer's Disease)
01/2020 - 01/2017
2Alkaptonuria
03/2015 - 01/2015
2Hyperammonemia
07/2012 - 12/2007
2Dystonia (Limb Dystonia)
10/2010 - 09/2008
2Calculi (Calculus)
10/2010 - 09/2008
2Ketosis
09/2002 - 07/2002
1Cardiomyopathies (Cardiomyopathy)
07/2020
1Hypotension (Low Blood Pressure)
07/2020
1Propionic Acidemia
07/2020
1biotin-responsive Basal ganglia disease
12/2019
1Glycogen Storage Disease Type VI (Glycogenosis Type VI)
12/2019
1Neurodevelopmental Disorders
05/2017
1neuronal 8 Ceroid lipofuscinosis
05/2017
1Neurodegenerative Diseases (Neurodegenerative Disease)
01/2017
1Autistic Disorder (Autism)
01/2017
1Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
01/2017
1Fragile X Syndrome (Martin Bell Syndrome)
01/2017
1Megaloblastic Anemia
12/2016
1Kidney Calculi (Kidney Stone)
07/2015
1Tyrosinemias (Tyrosinemia)
03/2015
1Chronic Kidney Failure (Chronic Renal Failure)
11/2013
1Diabetes Complications
11/2013
1Diabetic Nephropathies (Diabetic Nephropathy)
11/2013
1Combined Malonic and Methylmalonic Aciduria
08/2011
1HPRT-Related Gout
06/2011
1Cognitive Dysfunction
10/2010
1Intellectual Disability (Idiocy)
09/2008
1Muscular Diseases (Myopathy)
08/2008
1Ornithine Carbamoyltransferase Deficiency Disease
12/2007
1Coma (Comas)
12/2007
1Hepatocellular Carcinoma (Hepatoma)
05/2006
1Maple Syrup Urine Disease
05/2006
1Infections
09/2005
1Severe combined immunodeficiency due to adenosine deaminase deficiency
09/2005
1Purine Nucleoside Phosphorylase Deficiency
09/2005
1Neuroblastoma
06/2005
1Headache (Headaches)
09/2004
1Mitochondrial Diseases (Mitochondrial Disease)
09/2004
1Ethylmalonic encephalopathy
04/2004
1Purpura
04/2004

Drug/Important Bio-Agent (IBA)

16Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA
01/2020 - 07/2003
14EnzymesIBA
01/2020 - 05/2005
14purineIBA
01/2020 - 05/2005
5HypoxanthineIBA
01/2017 - 07/2003
4Uric Acid (Urate)IBA
04/2016 - 07/2003
3Proteins (Proteins, Gene)FDA Link
01/2020 - 02/2017
3DNA (Deoxyribonucleic Acid)IBA
05/2017 - 08/2012
3TransferasesIBA
07/2015 - 05/2005
2Amyloid (Amyloid Fibrils)IBA
01/2020 - 05/2017
2GuanineIBA
07/2015 - 05/2005
24-hydroxyphenylpyruvic acidIBA
03/2015 - 01/2015
2Tyrosine (L-Tyrosine)FDA Link
03/2015 - 01/2015
2nitisinone (Orfadin)FDA Link
03/2015 - 01/2015
2Allopurinol (Remid)FDA LinkGeneric
03/2005 - 07/2003
1DiureticsIBA
07/2020
1Thiamine (Aneurin)FDA Link
12/2019
1Biotin (Vitamin H)FDA Link
12/2019
1AntigensIBA
05/2017
1Nonsense Codon (Nonsense Mutation)IBA
05/2017
1Glycine (Aminoacetic Acid)FDA LinkGeneric
02/2017
1Alanine (L-Alanine)FDA Link
02/2017
1RNA IsoformsIBA
01/2017
1Uridine Monophosphate (UMP)IBA
12/2016
1Ligases (Synthetase)IBA
12/2016
1Orotic AcidIBA
12/2016
1orotidineIBA
12/2016
1Dopamine D1 Receptors (Dopamine D1 Receptor)IBA
04/2016
1ecopipamIBA
04/2016
1AdenineFDA LinkGeneric
07/2015
1Adenine phosphoribosyltransferase deficiencyIBA
07/2015
1Tryptophan (L-Tryptophan)FDA Link
03/2015
1Pharmaceutical PreparationsIBA
03/2015
1Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA
01/2015
1AnionsIBA
11/2013
1AcidsIBA
11/2013
1Mitochondrial DNA (mtDNA)IBA
11/2013
1Mitochondrial Proteins (Mitochondrial Protein)IBA
11/2013
1Biomarkers (Surrogate Marker)IBA
11/2013
1Messenger RNA (mRNA)IBA
08/2012
1OrnithineIBA
07/2012
1HHH syndromeIBA
07/2012
1malonyl-CoA synthetaseIBA
08/2011
1methylmalonyl-coenzyme A (methylmalonyl CoA)IBA
08/2011
1Carnitine palmitoyl transferase 2 deficiencyIBA
08/2008
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
08/2008
1Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
12/2007
1Codon (Codons)IBA
12/2007
1NucleotidesIBA
09/2005
1pyrimidineIBA
09/2005
1GTP-Binding Proteins (G-Protein)IBA
06/2005
1Nucleoside-TriphosphataseIBA
06/2005
1GTP Phosphohydrolases (GTPases)IBA
06/2005
1Dichloroacetic AcidIBA
09/2004
1Narcotics (Narcotic Analgesics)IBA
09/2004
1Methionine (L-Methionine)FDA Link
04/2004
1ethylmalonic acid (ethylmalonate)IBA
04/2004

Therapy/Procedure

4Liver Transplantation
07/2020 - 07/2002
1Therapeutics
03/2005