Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sophia Masi"'
Autor:
Michael H. Gelb, Farideh Ghomashchi, Makoto Ito, František Tureček, Arun Kumar, C. Ronald Scott, Naveen Kumar Chennamaneni, Sophia Masi, Zdenek Spacil
Publikováno v:
Clinical Chemistry. 61:1363-1371
BACKGROUND There is interest in newborn screening and diagnosis of lysosomal storage diseases because of the development of treatment options that improve clinical outcome. Assays of lysosomal enzymes with high analytical range (ratio of assay respon
Publikováno v:
Analytical chemistry. 90(20)
A new tandem mass spectrometry (MS/MS)-based approach for measurement of the enzymatic activity of palmitoyl protein thioesterase I (PPT1) in dried blood spots (DBS) is presented. Deficiency in this enzyme leads to infantile neuronal ceroid lipofusci
BACKGROUND Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::794f783210d2997afb79bd3528480615
https://europepmc.org/articles/PMC6383652/
https://europepmc.org/articles/PMC6383652/
Autor:
Arun Kumar, František Tureček, Zdenek Spacil, C. Ronald Scott, Sophia Masi, Farideh Ghomashchi, Makoto Ito, Tomomi Sumida, Michael H. Gelb
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 451
Background Treatments have been developed for mucopolysaccharidoses IVA (MPS IVA) and MPS VI suggesting the need for eventual newborn screening. Biochemical enzyme assays are important for diagnosis. Previously reported fluorimetric assays of the rel