Fabry disease screening in high-risk populations in Japan: a nationwide study

BACKGROUND: Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause multisystemic dysfunction. A recent screening study among ne...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Yoshida, Shinichiro, Kido, Jun, Sawada, Takaaki, Momosaki, Ken, Sugawara, Keishin, Matsumoto, Shirou, Endo, Fumio, Nakamura, Kimitoshi
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7448968/
https://ncbi.nlm.nih.gov/pubmed/32843101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01494-6
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