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pro vyhledávání: '"L. I. Didenko"'
Publikováno v:
Klinicheskaia laboratornaia diagnostika. 67(4)
Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the GLA gene. Neonatal screening for Fabry disease in males is feasible by measurement of α-galactosidase A activity in DBS using either the mass spectrometric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d88f00884b2060d747a5268bc6e06bc
https://pubmed.ncbi.nlm.nih.gov/35575392
https://pubmed.ncbi.nlm.nih.gov/35575392
