Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

38 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Newborn screening for Fabry disease in the north-west of Spain.
Colon C, Ortolano S, Melcon-Crespo C, Alvarez JV, Lopez-Suarez OE, Couce ML, Fernández-Lorenzo JR. Colon C, et al. Among authors: ortolano s. Eur J Pediatr. 2017 Aug;176(8):1075-1081. doi: 10.1007/s00431-017-2950-8. Epub 2017 Jun 23. Eur J Pediatr. 2017. PMID: 28646478 Free PMC article. Clinical Trial.
Fabry disease in the Spanish population: observational study with detection of 77 patients.
Vieitez I, Souto-Rodriguez O, Fernandez-Mosquera L, San Millan B, Teijeira S, Fernandez-Martin J, Martinez-Sanchez F, Aldamiz-Echevarria LJ, Lopez-Rodriguez M, Navarro C, Ortolano S. Vieitez I, et al. Among authors: ortolano s. Orphanet J Rare Dis. 2018 Apr 10;13(1):52. doi: 10.1186/s13023-018-0792-8. Orphanet J Rare Dis. 2018. PMID: 29631605 Free PMC article.
Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A.
Biferi MG, Cohen-Tannoudji M, García-Silva A, Souto-Rodríguez O, Viéitez-González I, San-Millán-Tejado B, Fernández-Carrera A, Pérez-Márquez T, Teijeira-Bautista S, Barrera S, Domínguez V, Marais T, González-Fernández Á, Barkats M, Ortolano S. Biferi MG, et al. Among authors: ortolano s. Mol Ther Methods Clin Dev. 2020 Oct 22;20:1-17. doi: 10.1016/j.omtm.2020.10.016. eCollection 2021 Mar 12. Mol Ther Methods Clin Dev. 2020. PMID: 33335943 Free PMC article.
Therapeutic Approaches in Lysosomal Storage Diseases.
Fernández-Pereira C, San Millán-Tejado B, Gallardo-Gómez M, Pérez-Márquez T, Alves-Villar M, Melcón-Crespo C, Fernández-Martín J, Ortolano S. Fernández-Pereira C, et al. Among authors: ortolano s. Biomolecules. 2021 Nov 26;11(12):1775. doi: 10.3390/biom11121775. Biomolecules. 2021. PMID: 34944420 Free PMC article. Review.
Protein Plasma Levels of the IGF Signalling System Are Altered in Major Depressive Disorder.
Fernández-Pereira C, Penedo MA, Rivera-Baltanás T, Pérez-Márquez T, Alves-Villar M, Fernández-Martínez R, Veiga C, Salgado-Barreira Á, Prieto-González JM, Ortolano S, Olivares JM, Agís-Balboa RC. Fernández-Pereira C, et al. Among authors: ortolano s. Int J Mol Sci. 2023 Oct 17;24(20):15254. doi: 10.3390/ijms242015254. Int J Mol Sci. 2023. PMID: 37894932 Free PMC article.
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. Ortolano S, et al. Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1. Neuromuscul Disord. 2011. PMID: 21288719
38 results