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A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL‐D) and the molecular characterization of 18 LAL‐D patients from Russia
Laboratory diagnostics of lysosomal acid lipase deficiency (LAL‐D), a rare disorder associated with LIPA alterations, are based on the evaluation of LAL activity. In dry blood spots (DBS) submitted for LAL‐D diagnostics (the screening cohort) over a two‐year period or obtained from a cohort of retro...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | JIMD Rep |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley & Sons, Inc.
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6606977/ https://ncbi.nlm.nih.gov/pubmed/31392116 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12050 |
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