Two siblings with attenuated MPS II form: Long term enzyme replacement therapy

Autor: Vashakmadze, Nato, Namazova-Baranova, Leyla, Zhurkova, Natalia, Gordeeva, Olga, Fedorova, Nina, Karkashadze, Georgii, Komarova, Elena, Savostianov, Kirill, Pushkov, Aleksandr

Publikováno v: In Molecular Genetics and Metabolism February 2021 132(2):S107-S108

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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.

Autor: Mayanskiy N; Russian Children Clinical Hospital Pirogov Russian National Research Medical University Moscow Russia., Brzhozovskaya E; Laboratory department National Medical Research Center for Children's Health Moscow Russia., Pushkov A; Laboratory for molecular genetics and cellular biology National Medical Research Center for Children's Health Moscow Russia., Strokova T; Department for pediatric gastroenterology, hepatology and nutrition Federal Research Center for Nutrition and Biotechnology Moscow Russia., Vlasov N; Department for pediatrics Filatov's Children Hospital, No.5 Saint-Petersburg Russia.; Gastroenterology Chair State Pediatric Medical University Saint-Petersburg Russia., Surkov A; Department for gastroenterology National Medical Research Center for Children's Health Moscow Russia., Gundobina O; Department for gastroenterology National Medical Research Center for Children's Health Moscow Russia., Savostianov K; Laboratory for molecular genetics and cellular biology National Medical Research Center for Children's Health Moscow Russia.

Publikováno v: JIMD reports [JIMD Rep] 2019 Jun 03; Vol. 48 (1), pp. 75-82. Date of Electronic Publication: 2019 Jun 03 (Print Publication: 2019).