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-Reference-Cited by-同舟云学术

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

Published:2019-06-03 Issue:1 Volume:48 Page:75-82
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Mayanskiy Nikolay¹,Brzhozovskaya Ekaterina²,Pushkov Alexander³,Strokova Tatiana⁴,Vlasov Nikolay⁵⁶,Surkov Andrej⁷,Gundobina Olga⁷,Savostianov Kirill³

Affiliation:

1. Russian Children Clinical HospitalPirogov Russian National Research Medical University Moscow Russia

2. Laboratory departmentNational Medical Research Center for Children's Health Moscow Russia

3. Laboratory for molecular genetics and cellular biologyNational Medical Research Center for Children's Health Moscow Russia

4. Department for pediatric gastroenterology, hepatology and nutritionFederal Research Center for Nutrition and Biotechnology Moscow Russia

5. Department for pediatricsFilatov's Children Hospital, No.5 Saint‐Petersburg Russia

6. Gastroenterology ChairState Pediatric Medical University Saint‐Petersburg Russia

7. Department for gastroenterologyNational Medical Research Center for Children's Health Moscow Russia

Funder

Alexion Pharmaceuticals

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12050

Reference16 articles.

1. Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency

2. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD

3. Frequency of the cholesteryl ester storage disease commonLIPAE8SJM mutation (c.894G>A) in various racial and ethnic groups

4. Lysosomal acid lipase deficiency: Expanding differential diagnosis

5. Acid esterase activity in cultured skin fibroblasts and amniotic fluid cells using 4-methylumbelliferyl palmitate

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