Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis.

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作者： Lucia,Santoro ^[1] ; Lucia,Zampini ^[1] ; Lucia,Padella ^[1] ; Chiara,Monachesi ^[1] ; Stefania,Zampieri ^[2] ; Andrea,Dardis ^[2] ; Rosanna,Cordiali ^[1] ; Tiziana,Galeazzi ^[1] ; Carlo,Catassi ^[1]

作者单位： Department of Clinical Sciences, Division of Pediatrics Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi Ancona Italy. ^[1] Regional Coordinator Centre for Rare Diseases Academic Hospital "Santa Maria della Misericordia" Udine Italy. ^[2]

关键词 Hematopoietic cell transplantation alpha mannosidosis enzyme replacement therapy liquid chromatography coupled with tandem mass spectrometry oligosaccharides thin layer chromatography

DOI 10.1002/jmd2.12144

PMID 32905047

发布时间 2024-03-29

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