J G Puig Selected Research

Neurologic Manifestations (Neurological Manifestations)

12/2016	A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.
11/2015	Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.
6/2010	Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
6/2010	Partial HPRT deficiency phenotype and incomplete splicing mutation.
11/2009	Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients.
6/2008	The diagnosis of HPRT deficiency in the 21st century.
1/2006	Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
3/2001	The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
4/2000	Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.

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J G Puig Research Topics

Disease

11	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 12/2016 - 03/2001
9	Neurologic Manifestations (Neurological Manifestations) 12/2016 - 04/2000
6	Gout 12/2016 - 01/2006
4	Hyperuricemia 12/2016 - 03/2003
4	Metabolic Syndrome (Dysmetabolic Syndrome X) 06/2010 - 06/2008
2	Obesity 01/2015 - 06/2010
2	Renal Insufficiency (Renal Failure) 01/2014 - 01/2006
2	Hypertension (High Blood Pressure) 06/2010 - 10/2007
1	Carcinoma (Carcinomatosis) 11/2015
1	Overweight 01/2015
1	Dyslipidemias (Dyslipidemia) 06/2010
1	Joint Diseases (Joint Disease) 06/2008
1	Hypothyroidism 06/2008
1	Psoriasis (Pustulosis Palmaris et Plantaris) 06/2008
1	Disease Progression 06/2008
1	Chronic Bronchitis 06/2008
1	Urolithiasis 06/2008
1	Lithiasis 01/2006
1	Fibrosis (Cirrhosis) 03/2003
1	Juvenile gout 03/2003
1	Chronic Kidney Failure (Chronic Renal Failure) 03/2003
1	Body Weight (Weight, Body) 12/2001
1	Albuminuria 12/2001
1	HPRT-Related Gout 03/2001
1	Nervous System Diseases (Neurological Disorders) 03/2001
1	Intellectual Disability (Idiocy) 03/2001
1	Confusion (Bewilderment) 03/2001

Drug/Important Bio-Agent (IBA)

11	Uric Acid (Urate)IBA 12/2016 - 12/2001
11	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 11/2015 - 04/2000
4	HypoxanthineIBA 12/2016 - 01/2006
4	EnzymesIBA 12/2016 - 03/2001
3	CreatinineIBA 01/2014 - 12/2001
3	purineIBA 06/2010 - 01/2006
3	Adenosine (Adenocard)FDA LinkGeneric 11/2009 - 10/2004
3	Allopurinol (Remid)FDA LinkGeneric 06/2008 - 01/2006
2	XanthineIBA 06/2008 - 01/2006
2	Antihypertensive Agents (Antihypertensives)IBA 10/2007 - 12/2001
1	PurinesIBA 01/2015
1	FructoseIBA 01/2015
1	Fenofibrate (CiL)FDA LinkGeneric 01/2014
1	Glucose (Dextrose)FDA LinkGeneric 06/2010
1	Messenger RNA (mRNA)IBA 06/2010
1	Dopamine Receptors (Dopamine Receptor)IBA 11/2009
1	TransferasesIBA 11/2009
1	Dopamine (Intropin)FDA LinkGeneric 11/2009
1	GuanineIBA 11/2009
1	C-Reactive ProteinIBA 06/2008
1	CreatineIBA 06/2008
1	Pharmaceutical PreparationsIBA 06/2008
1	glycocyamineIBA 06/2008
1	aliskiren FDA Link 10/2007
1	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 10/2007
1	Renin InhibitorsIBA 10/2007
1	Hydrochlorothiazide (Esidrix)FDA LinkGeneric 10/2007
1	Lisinopril (Prinivil)FDA LinkGeneric 10/2007
1	UromodulinIBA 03/2003
1	Blood Glucose (Blood Sugar)IBA 12/2001
1	Serum AlbuminIBA 12/2001
1	CholesterolIBA 12/2001
1	PotassiumIBA 12/2001
1	Proteins (Proteins, Gene)FDA Link 03/2001

Therapy/Procedure

5	Therapeutics 12/2016 - 01/2006