LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots

Author:

Ohira Mari,Barr Marianne,Okuyama Torayuki,Mashima Ryuichi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference16 articles.

1. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants;Jones;Genet. Med.,2016

2. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction;Željko;Atherosclerosis.,2014

3. Managing cardiovascular risk in lysosomal acid lipase deficiency;James;Am. J. Cardiovasc. Drugs,2017

4. Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study;Simon;Orphanet J. Rare Dis.,2017

5. A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency;Burton;N. Engl. J. Med.,2015

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1. TOVARLARNING SIFAT VA MIQDORIY TARKIBINI FIZIK-KIMYOVIY USLUBLARDA TADQIQ QILISHDA NATIJALARNING ISHONCHLILIGINI TAʼMINLASH;Журнал химии товаров и народной медицины;2023-05-15

2. Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study;International Journal of Molecular Sciences;2022-12-08

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