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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Những tác giả chính: Sergio Caravita (Tác giả), Ilaria Tanini (Tác giả), Lia Crotti (Tác giả), Claudia Baratto (Tác giả), Gianfranco Parati (Tác giả), Francesco Fattirolli (Tác giả), Iacopo Olivotto (Tác giả), Franco Cecchi (Tác giả)
Định dạng: Sách
Được phát hành: Journal of Cardiovascular Medicine and Cardiology - Peertechz Publications, 2021-11-04.
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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.