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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Sergio Caravita (लेखक), Ilaria Tanini (लेखक), Lia Crotti (लेखक), Claudia Baratto (लेखक), Gianfranco Parati (लेखक), Francesco Fattirolli (लेखक), Iacopo Olivotto (लेखक), Franco Cecchi (लेखक)
स्वरूप: पुस्तक
प्रकाशित: Journal of Cardiovascular Medicine and Cardiology - Peertechz Publications, 2021-11-04.
विषय:
ऑनलाइन पहुंच:Connect to this object online.
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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.