Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recy...
Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
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Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
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Publisher
Dordrecht: Springer Netherlands
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Scope and Contents
Contents
Lesch-Nyhan disease (LND) is a rare, X-linked recessive neurodevelopmental disorder caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGprt), an enzyme in the purine salvage pathway. HGprt has two functions; it recycles hypoxanthine and guanine. Which of these two functions is more relevant for pathogenesis is unclear because...
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Full title
Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5903427
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5903427
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-015-9869-x
