martes, 23 de junio de 2020

Pathologic substrate of gastropathy in Anderson-Fabry disease | Orphanet Journal of Rare Diseases | Full Text

Pathologic substrate of gastropathy in Anderson-Fabry disease | Orphanet Journal of Rare Diseases | Full Text

In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal sy...
Authors:Alessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi and Eloisa Arbustini
Citation:Orphanet Journal of Rare Diseases 2020 15:156
Content type:Letter to the Editor
 
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