Lataa...
AB124. Mucolipidosis type II: clinical features and laboratories
BACKGROUND: I-cell disease (Mucolipidosis II) is a rare lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-l-phosphotransferase, an enzyme that transfers phosphate groups onto oligosaccharide units of lysosomal enzyme precursors. Due to the absence of transferase activity, th...
Tallennettuna:
| Julkaisussa: | Ann Transl Med |
|---|---|
| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
AME Publishing Company
2015
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4563455/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB124 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|