Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Marta G. Garcia"'
Publikováno v:
Nucleosides, Nucleotides & Nucleic Acids. 35:507-516
Lesch-Nyhan disease is caused by HGprt deficiency, however, the mechanism by which enzyme deficiency leads to the severe neurological manifestations is still unknown. We hypothesized that hypoxanthine excess leads, directly or indirectly, through its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1967eb71eb517d73eef3a939cc09451
https://doi.org/10.1080/15257770.2016.1147579
https://doi.org/10.1080/15257770.2016.1147579
Publikováno v:
Journal of Inherited Metabolic Disease. 35:1129-1135
Lesch-Nyhan disease (LND) is caused by complete deficiency of the hypoxanthine-guanine phosphoribosyltransferase enzyme. It is characterized by overproduction of uric acid, jointly with severe motor disability and self-injurious behaviour which physi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78eac80f87e5a341025c94edeb0a26d4
https://doi.org/10.1007/s10545-012-9470-5
https://doi.org/10.1007/s10545-012-9470-5
Publikováno v:
Medicina Clínica. 136:63-66
Resumen Fundamento y objetivo El sindrome de Lesch-Nyhan (SLN) y sus «variantes» se deben a mutaciones del gen HPRT1 , que ocasionan una deficiencia de la actividad enzimatica hipoxantina-guanina-fosforribosiltransferasa (HPRT). El fenotipo variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06faaf4f4022af165c23ee5b42321ef4
https://doi.org/10.1016/j.medcli.2010.05.010
https://doi.org/10.1016/j.medcli.2010.05.010
Publikováno v:
Nucleosides, Nucleotides and Nucleic Acids. 29:301-305
Lesch-Nyhan syndrome is an X-linked recessive inborn error of metabolism due to a complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322). Partial deficiency of HPRT (OMIM 300323) is characterized by the ef
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9773964addbf46dd2fcb69204a08d8f1
https://doi.org/10.1080/15257771003738675
https://doi.org/10.1080/15257771003738675
Publikováno v:
Brain, Behavior, and Immunity. 23:1125-1131
Self-injurious behavior is the most outstanding feature of Lesch-Nyhan syndrome and has recently been ascribed to an obsessive-compulsive behavior. Lesch-Nyhan syndrome results from the complete enzyme deficiency of hypoxanthine-guanine phosphoribosy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b130052851b2c3d7f5ad387ba6f81d26
https://doi.org/10.1016/j.bbi.2009.07.006
https://doi.org/10.1016/j.bbi.2009.07.006
Publikováno v:
The Indian Journal of Pediatrics. 79:1520-1522
The authors report two brothers who presented with motor delay and stiffness. The elder boy had auto-mutilation of lips and fingers. Serum uric acid was elevated in both the children. Both the boys had undetectable hypoxanthine-guanine phosphoribosyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::111ac1441d5474ed615c37433c480bd1
https://doi.org/10.1007/s12098-011-0657-9
https://doi.org/10.1007/s12098-011-0657-9
Publikováno v:
Nucleosides, nucleotidesnucleic acids. 33(4-6)
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc51657cb1c17d2ad776c1db7350d94
https://pubmed.ncbi.nlm.nih.gov/24940673
https://pubmed.ncbi.nlm.nih.gov/24940673
Publikováno v:
Nucleosides, nucleotidesnucleic acids. 29(4-6)
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of enzyme de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3dec4f103e7bda8e4fcfdf5547e50f
https://pubmed.ncbi.nlm.nih.gov/20544510
https://pubmed.ncbi.nlm.nih.gov/20544510
Publikováno v:
Molecular genetics and metabolism. 94(2)
Lesch-Nyhan syndrome is an X-linked recessive inborn error of metabolism due to a virtually complete lack of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322). Partial deficiency of HPRT (OMIM 300323) is characterized by th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6860a8821edae681e66dd8adfe1090c5
https://pubmed.ncbi.nlm.nih.gov/18316217
https://pubmed.ncbi.nlm.nih.gov/18316217
Publikováno v:
Value in Health. 9(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34ec4b73062489fbf5594f1e42519761