Rosa J Torres Selected Research

Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)

1/2022	Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease.
1/2020	Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.
6/2018	GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
1/2018	Aicar effect in early neuronal development.
12/2012	Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.
11/2012	Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.
1/2011	Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
3/2010	Attenuated variants of Lesch-Nyhan disease.
6/2008	Normal HPRT coding region in complete and partial HPRT deficiency.
12/2007	Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

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Rosa J Torres Research Topics

Disease

17	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 01/2022 - 02/2004
14	Gout 01/2020 - 07/2003
9	Hyperuricemia 01/2020 - 01/2003
7	Neurologic Manifestations (Neurological Manifestations) 01/2020 - 09/2007
2	Intellectual Disability (Idiocy) 01/2022 - 05/2006
2	Arthritis (Polyarthritis) 01/2020 - 01/2014
2	Arts syndrome 11/2016 - 12/2014
2	Dystonia (Limb Dystonia) 03/2010 - 12/2007
2	Lithiasis 12/2007 - 09/2007
1	Self Mutilation 01/2022
1	Carcinoma (Carcinomatosis) 01/2018
1	Optic Atrophy 12/2014
1	Deafness (Deaf Mutism) 12/2014
1	Hypertension (High Blood Pressure) 01/2014
1	Obesity 01/2014
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2014
1	Nephrolithiasis 04/2012
1	Renal Insufficiency (Renal Failure) 01/2011
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 06/2010
1	Urolithiasis 09/2007
1	Hypersensitivity (Allergy) 09/2007
1	Inborn Genetic Diseases (Disease, Hereditary) 09/2007
1	Body Weight (Weight, Body) 09/2007
1	Essential Hypertension 10/2004
1	Chronic Kidney Failure (Chronic Renal Failure) 01/2003
1	Fibrosis (Cirrhosis) 01/2003
1	Juvenile gout 01/2003

Drug/Important Bio-Agent (IBA)

21	Uric Acid (Urate)IBA 01/2020 - 01/2003
12	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 01/2022 - 05/2006
8	purineIBA 01/2022 - 07/2003
6	EnzymesIBA 01/2022 - 05/2006
2	CreatinineIBA 01/2020 - 06/2010
2	AICA ribonucleotide (ZMP)IBA 01/2020 - 01/2018
2	Allopurinol (Remid)FDA LinkGeneric 06/2018 - 09/2007
2	Ligases (Synthetase)IBA 11/2016 - 07/2003
2	Adenosine (Adenocard)FDA LinkGeneric 11/2012 - 02/2004
2	XanthineIBA 12/2007 - 09/2007
1	RNA (Ribonucleic Acid)IBA 01/2022
1	Botulinum Toxins (Botulinum Toxin)IBA 01/2022
1	Toll-Like Receptor 4IBA 01/2020
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2020
1	Dopamine D1 Receptors (Dopamine D1 Receptor)IBA 01/2016
1	ecopipamIBA 01/2016
1	Ribose-Phosphate Pyrophosphokinase (Phosphoribosyl Pyrophosphate Synthetase)IBA 12/2014
1	urate transporterIBA 09/2014
1	LipidsIBA 01/2014
1	Glucose (Dextrose)FDA LinkGeneric 01/2014
1	Neurotransmitter Agents (Neurotransmitter)IBA 11/2012
1	Dopamine (Intropin)FDA LinkGeneric 11/2012
1	Serotonin (5 Hydroxytryptamine)IBA 11/2012
1	rasburicase (Elitek)FDA Link 04/2009
1	Levodopa (L Dopa)FDA LinkGeneric 07/2008
1	Messenger RNA (mRNA)IBA 06/2008
1	BenzodiazepinesIBA 12/2007
1	GuanineIBA 12/2007
1	gamma-Aminobutyric Acid (GABA)IBA 12/2007
1	Baclofen FDA LinkGeneric 12/2007
1	HypoxanthineIBA 12/2007
1	Xanthine OxidaseIBA 09/2007
1	SodiumIBA 10/2004

Therapy/Procedure

3	Therapeutics 01/2014 - 09/2007
1	Enzyme Replacement Therapy 01/2014