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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Detalles Bibliográficos
Autores principales: Mayanskiy, Nikolay, Brzhozovskaya, Ekaterina, Pushkov, Alexander, Strokova, Tatiana, Vlasov, Nikolay, Surkov, Andrej, Gundobina, Olga, Savostianov, Kirill
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606977/
https://www.ncbi.nlm.nih.gov/pubmed/31392116
http://dx.doi.org/10.1002/jmd2.12050

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606977/
https://www.ncbi.nlm.nih.gov/pubmed/31392116
http://dx.doi.org/10.1002/jmd2.12050

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