Enfermedad de Fabry en el adulto

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An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.

Mol Genet Metab. 2022 ;137:49-61. 


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Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M et al.

Fabry disease revisited: Management and treatment recommendations for adult patients.

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Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H et al.

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Mol Genet Genomic Med. 2021 ;9:e1666. 


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