Impaired cardiopulmonary test performance as a marker of early functional impairment in patients with Anderson-Fabry disease
<p>Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disease characterized by progressive glicosphingolipid accumulation in multiple organs, due to α-galactosidase a deficiency [1]. It is considered a rare disease although newborn genetic screening showed non-negligible prevalence...
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Journal of Cardiovascular Medicine and Cardiology - Peertechz Publications,
2021-11-04.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | peertech__10_17352_2455-2976_000173 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Sergio Caravita |e author |
| 700 | 1 | 0 | |a Ilaria Tanini |e author |
| 700 | 1 | 0 | |a Lia Crotti |e author |
| 700 | 1 | 0 | |a Claudia Baratto |e author |
| 700 | 1 | 0 | |a Gianfranco Parati |e author |
| 700 | 1 | 0 | |a Francesco Fattirolli |e author |
| 700 | 1 | 0 | |a Iacopo Olivotto |e author |
| 700 | 1 | 0 | |a Franco Cecchi |e author |
| 245 | 0 | 0 | |a Impaired cardiopulmonary test performance as a marker of early functional impairment in patients with Anderson-Fabry disease |
| 260 | |b Journal of Cardiovascular Medicine and Cardiology - Peertechz Publications, |c 2021-11-04. | ||
| 520 | |a <p>Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disease characterized by progressive glicosphingolipid accumulation in multiple organs, due to α-galactosidase a deficiency [1]. It is considered a rare disease although newborn genetic screening showed non-negligible prevalence (∼1:3.900) [1]. Cardiac manifestations include progressive Left Ventricular (LV) Hypertrophy (LVH), which may be extreme and provoke both reduced stroke volume and dynamic LV outflow tract obstruction [2-6]. </p> | ||
| 540 | |a Copyright © Sergio Caravita et al. | ||
| 546 | |a en | ||
| 655 | 7 | |a Short Communication |2 local | |
| 856 | 4 | 1 | |u https://doi.org/10.17352/2455-2976.000173 |z Connect to this object online. |