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...

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Bibliographische Detailangaben
Veröffentlicht in:JIMD Rep
Hauptverfasser: Mayanskiy, Nikolay, Brzhozovskaya, Ekaterina, Pushkov, Alexander, Strokova, Tatiana, Vlasov, Nikolay, Surkov, Andrej, Gundobina, Olga, Savostianov, Kirill
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley & Sons, Inc. 2019
Schlagworte:
Research Reports
Online Zugang: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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