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Alba Torrent-Vernetta

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Articles 15
Citations 79
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Recent Articles
1.
Manali E, Griese M, Nathan N, Uzunhan Y, Borie R, Michel K, et al.
Eur Respir J . 2024 Dec; 65(2). PMID: 39638417
Background: Interstitial lung disease is rarer in children than adults, but, with increasing diagnostic awareness, more cases are being discovered. The prognosis of childhood interstitial lung disease is often poor,...
2.
Moreno-Galdo A, Iglesias-Serrano I, Rovira-Amigo S, Torrent-Vernetta A
Pediatr Pulmonol . 2024 Oct; PMID: 39382376
Diffuse parenchymal lung diseases or children interstitial lung disease (chILD) in pediatrics are a heterogenous group of more than 200 rare diseases with an incidence and prevalence around 8.2 and...
3.
Torrent-Vernetta A, Soriano M, Iglesias Serrano I, Izquierdo A, Rovira Amigo S, Messa I, et al.
Pediatr Pulmonol . 2023 Nov; 59(8):2080-2088. PMID: 37983751
Children on long-term home mechanical ventilation are a growing population due to clinical and technological advances and the benefit for the child's quality of life. Invasive home ventilation is one...
4.
Nathan N, Griese M, Michel K, Carlens J, Gilbert C, Emiralioglu N, et al.
Eur Respir Rev . 2023 Feb; 32(167). PMID: 36813289
Childhood interstitial lung diseases (chILDs) are rare and heterogeneous diseases with significant morbidity and mortality. An accurate and quick aetiological diagnosis may contribute to better management and personalised treatment. On...
5.
Li Y, Seidl E, Knoflach K, Gothe F, Forstner M, Michel K, et al.
Thorax . 2023 Feb; 78(6):587-595. PMID: 36808083
Background: The majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their...
6.
Cruz-Utrilla A, Gallego-Zazo N, Tenorio-Castano J, Guillen I, Torrent-Vernetta A, Moya-Bonora A, et al.
Int J Mol Sci . 2022 Sep; 23(18). PMID: 36142358
Background: Pulmonary arterial hypertension (PAH) is a severe and rare disease with an important genetic background. The influence of genetic testing in the clinical classification of pediatric PAH is not...
7.
Torrent-Vernetta A, Gaboli M, Castillo-Corullon S, Mondejar-Lopez P, Sanz Santiago V, Costa-Colomer J, et al.
Arch Bronconeumol . 2022 Mar; 58(1):22-29. PMID: 35249699
Background: Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are...
8.
Cruz-Utrilla A, Gallego N, Torrent-Vernetta A, Guillen I, Escribano Subias M, Del Cerro Marin M
Rev Esp Cardiol (Engl Ed) . 2022 Jan; 75(5):448-450. PMID: 35058221
No abstract available.
9.
Schuch L, Forstner M, Rapp C, Li Y, Smith D, Mendes M, et al.
Clin Genet . 2021 Feb; 99(6):789-801. PMID: 33598926
Aminoacyl-tRNA synthetases (ARSs) catalyze the first step of protein biosynthesis (canonical function) and have additional (non-canonical) functions outside of translation. Bi-allelic pathogenic variants in genes encoding ARSs are associated with...
10.
Baz-Redon N, Rovira-Amigo S, Fernandez-Cancio M, Castillo-Corullon S, Cols M, Caballero-Rabasco M, et al.
J Clin Med . 2020 Nov; 9(11). PMID: 33182294
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins...