Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

@article{Morrone2003FabryDM,
  title={Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.},
  author={A Luigi Morrone and Catia Cavicchi and Tiziana Bardelli and Daniela Antuzzi and Rosella Parini and Maja Di Rocco and S Feriozzi and Orazio Gabrielli and Rosemary Barone and Giuseppe Pistone and Claudio Spisni and Rosalba Ricci and Enrico Zammarchi},
  journal={Journal of medical genetics},
  year={2003},
  volume={40 8},
  pages={e103}
}
Anderson-Fabry disease (E C 3.2.1.22, MIM 301500) is an X linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA). 2 The onset of the disease and the severity of clinical manifestations depend principally on residual GLA enzymatic activity. Fabry disease can be classified into two clinical phenotypes: the classical form and the cardiac variant. 3 The classical form is mainly characterised, in affected hemizygous males, by angiokeratoma, acroparaesthesias… CONTINUE READING