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F A Mateos Selected Research

Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)

3/2001The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
4/2000Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.

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F A Mateos Research Topics

Disease

2Neurologic Manifestations (Neurological Manifestations)
03/2001 - 04/2000
1Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
03/2001
1Intellectual Disability (Idiocy)
03/2001
1Nervous System Diseases (Neurological Disorders)
03/2001
1HPRT-Related Gout
03/2001
1Confusion (Bewilderment)
03/2001

Drug/Important Bio-Agent (IBA)

2Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA
03/2001 - 04/2000
1EnzymesIBA
03/2001
1Proteins (Proteins, Gene)FDA Link
03/2001