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R J Torres Selected Research

Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)

9/2017Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
11/2015Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.
11/2014From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics.
6/2010Partial HPRT deficiency phenotype and incomplete splicing mutation.
6/2010Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
11/2009Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients.
6/2008The diagnosis of HPRT deficiency in the 21st century.
6/2008Urinary guanidinoacetate and creatine levels in patients with HPRT deficiency.
1/2006Hypoxanthine effect on equilibrative and concentrative adenosine transport in human lymphocytes: implications in the phatogenesis of Lesch-Nyhan syndrome.
1/2006Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
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R J Torres Research Topics

Disease

13Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
09/2017 - 03/2001
9Neurologic Manifestations (Neurological Manifestations)
12/2016 - 04/2000
4Hyperuricemia
09/2017 - 03/2003
4Gout
12/2016 - 01/2006
3Metabolic Syndrome (Dysmetabolic Syndrome X)
06/2010 - 06/2008
2HPRT-Related Gout
09/2017 - 03/2001
2Renal Insufficiency (Renal Failure)
01/2014 - 01/2006
1Dyskinesias (Dyskinesia)
09/2017
1Dystonia (Limb Dystonia)
09/2017
1Carcinoma (Carcinomatosis)
11/2015
1Inborn Genetic Diseases (Disease, Hereditary)
11/2014
1Dyslipidemias (Dyslipidemia)
06/2010
1Hypertension (High Blood Pressure)
06/2010
1Obesity
06/2010
1Chronic Bronchitis
06/2008
1Hypothyroidism
06/2008
1Joint Diseases (Joint Disease)
06/2008
1Psoriasis (Pustulosis Palmaris et Plantaris)
06/2008
1Disease Progression
06/2008
1Urolithiasis
06/2008
1Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
02/2006
1Lithiasis
01/2006
1Fibrosis (Cirrhosis)
03/2003
1Chronic Kidney Failure (Chronic Renal Failure)
03/2003
1Juvenile gout
03/2003
1Confusion (Bewilderment)
03/2001
1Nervous System Diseases (Neurological Disorders)
03/2001
1Intellectual Disability (Idiocy)
03/2001

Drug/Important Bio-Agent (IBA)

13Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA
09/2017 - 04/2000
8Uric Acid (Urate)IBA
12/2016 - 03/2003
5EnzymesIBA
12/2016 - 03/2001
4HypoxanthineIBA
12/2016 - 01/2006
3purineIBA
06/2010 - 01/2006
3Adenosine (Adenocard)FDA LinkGeneric
11/2009 - 10/2004
3Allopurinol (Remid)FDA LinkGeneric
06/2008 - 01/2006
2XanthineIBA
06/2008 - 01/2006
1Fenofibrate (CiL)FDA LinkGeneric
01/2014
1CreatinineIBA
01/2014
1Glucose (Dextrose)FDA LinkGeneric
06/2010
1Messenger RNA (mRNA)IBA
06/2010
1GuanineIBA
11/2009
1TransferasesIBA
11/2009
1Dopamine (Intropin)FDA LinkGeneric
11/2009
1Dopamine Receptors (Dopamine Receptor)IBA
11/2009
1C-Reactive ProteinIBA
06/2008
1CreatineIBA
06/2008
1Pharmaceutical PreparationsIBA
06/2008
1glycocyamineIBA
06/2008
1Mitochondrial DNA (mtDNA)IBA
02/2006
1UromodulinIBA
03/2003
1Proteins (Proteins, Gene)FDA Link
03/2001

Therapy/Procedure

4Therapeutics
12/2016 - 01/2006