著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI) DESNICK RJ,α-galactosidase A deficiency : Fabry disease,The Metabolic and Molecular Bases of Inherited Disease,,McGraw-Hill,2001,,,,https://cir.nii.ac.jp/crid/1570291225287755904,