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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.
JIMD Rep. 2019 Jun 3;48(1):75-82. doi: 10.1002/jmd2.12050. eCollection 2019 Jul.
JIMD Rep. 2019.
PMID: 31392116
Free PMC article.
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.
Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY.
Bychkov IO, et al. Among authors: gundobina os.
Mol Genet Metab. 2019 Jul;127(3):212-215. doi: 10.1016/j.ymgme.2019.06.005. Epub 2019 Jun 15.
Mol Genet Metab. 2019.
PMID: 31230978
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