HPRT deficiency in Spain: what have we learned in the past 30 years (1984-2013)?
Nucleosides Nucleotides Nucleic Acids
; 33(4-6): 223-32, 2014.
Article
in En
| MEDLINE
| ID: mdl-24940673
ABSTRACT
Since 1984, we have diagnosed at the La Paz University Hospital, Madrid, Spain, 41 patients with hypoxanthine phosphoribosyltransferase (HPRT) activity deficiency. These patients belonged to 34 families. We have also performed molecular and enzymatic diagnosis in three patients from India, one from Belgium, and three from Colombia. About 1/3 of these patients were followed up at La Paz University Hospital at least every year. This fact has allowed us to examine the complete spectrum of HPRT deficiency as well as to perform a more accurate diagnosis and treatment. In the present review, we also summarized our studies on the basis of physiopathology of the neurological manifestation of Lesch Nyhan disease (LND).
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Lesch-Nyhan Syndrome
Type of study:
Diagnostic_studies
Limits:
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
Nucleosides Nucleotides Nucleic Acids
Journal subject:
BIOQUIMICA
Year:
2014
Document type:
Article
Affiliation country:
España