Zobrazeno 1 - 10
of 44
pro vyhledávání: '"targeted next-generation sequencing (tNGS)"'
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 14 (2024)
BackgroundAlthough the emerging NGS-based assays, metagenomic next-generation sequencing (mNGS) and targeted next-generation sequencing (tNGS), have been extensively utilized for the identification of pathogens in pulmonary infections, there have bee
Externí odkaz:
https://doaj.org/article/474c5a78a19747adb3d31f81c79ff5aa
Autor:
Zhaoru Huang, Bingxue Hu, Jinfeng Li, Min Feng, Zhigang Wang, Fengxiang Huang, Huan Xu, Lei Liu, Wenjun Shang
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundMetagenomic next-generation sequencing (mNGS), which provides untargeted and unbiased pathogens detection, has been extensively applied to improve diagnosis of pulmonary infection. This study aimed to compare the clinical performance betwee
Externí odkaz:
https://doaj.org/article/ffdad74609d14de08bfaa4d08dfe7afa
Publikováno v:
Frontiers in Microbiology, Vol 15 (2024)
ObjectiveDiagnosing tuberculosis (TB) can be particularly challenging in the absence of sputum for pulmonary tuberculosis cases and extrapulmonary TB (EPTB). This study evaluated the utility of nanopore-based targeted next-generation sequencing (tNGS
Externí odkaz:
https://doaj.org/article/d7920ecf21ae4097b8fcf70d877c38bb
Autor:
Oriol Calvete, Julia Mestre, Ruth M. Risueño, Ana Manzanares, Pamela Acha, Blanca Xicoy, Francesc Solé
Publikováno v:
Biomedicines, Vol 11, Iss 12, p 3222 (2023)
Next-generation sequencing (NGS) tools have importantly helped the classification of myelodysplastic syndromes (MDS), guiding the management of patients. However, new concerns are under debate regarding their implementation in routine clinical practi
Externí odkaz:
https://doaj.org/article/4636b85de0d74f138ff07e445d0865a7
Autor:
Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavallaro
Publikováno v:
Biomedicines, Vol 11, Iss 7, p 1899 (2023)
Hyperphenylalaninemia (HPA) is the most common inherited amino acid metabolism disorder characterized by serious clinical manifestations, including irreversible brain damage, intellectual deficiency and epilepsy. Due to its extensive genic and alleli
Externí odkaz:
https://doaj.org/article/ac5a963f51804b68b167b03cf3c04b63
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Akademický článek
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Autor:
Cavallaro, Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano
Publikováno v:
Biomedicines; Volume 11; Issue 7; Pages: 1899
Hyperphenylalaninemia (HPA) is the most common inherited amino acid metabolism disorder characterized by serious clinical manifestations, including irreversible brain damage, intellectual deficiency and epilepsy. Due to its extensive genic and alleli
Akademický článek
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Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 77 (2021)
Duchenne muscular dystrophy (DMD) is not currently part of mandatory newborn screening, despite the availability of a test since 1975. In the absence of screening, a DMD diagnosis is often not established in patients until 3–6 years of age. During
Externí odkaz:
https://doaj.org/article/246c951e8bab4725a6b296a6369f0fdd