Nalaganje...
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, i.e. signs of self-injurious behavior (SIB) and results of pedigree analysis and novel molecular biology & genetic test...
Shranjeno v:
| izdano v: | Intractable Rare Dis Res |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2017
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5359358/ https://ncbi.nlm.nih.gov/pubmed/28357186 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01076 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|