المؤلفون: Diego F. Gauto, Pavel Macek, Duccio Malinverni, Hugo Fraga, Matteo Paloni, Iva Sučec, Audrey Hessel, Juan Pablo Bustamante, Alessandro Barducci, Paul Schanda

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ab237d89762e45b3a86e9647c96705ee

المؤلفون: Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F Hasholt, Flemming Wibrand, Soren S Sorensen, Allan M Lund, Lars Kober, Henning Bundgaard, Puriya D W Yazdanfard, Peter Oturai, Vibeke A Larsen, Victor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen

المصدر: PLoS ONE, Vol 18, Iss 6, p e0287268 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/8883cb76a9684b67b23e0587339173dc

المؤلفون: Puriya Daniel Würtz Yazdanfard, Grigoris Effraimidis, Christoffer Valdorff Madsen, Lars Holme Nielsen, Åse Krogh Rasmussen, Jørgen Holm Petersen, Søren Schwartz Sørensen, Lars Køber, Vitor Hugo Fraga de Abreu, Vibeke Andrée Larsen, Ulla Feldt-Rasmussen

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100841- (2022)

مصطلحات موضوعية: Fabry disease, Hearing loss, Genetic disorder, Albuminuria, Chronic kidney disease, Lysosomal storage disorder, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000015; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/6cd6ac5f35b14734ab6a47899baa2717

المؤلفون: Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F Hasholt, Flemming Wibrand, Soren S Sorensen, Allan M Lund, Lars Kober, Henning Bundgaard, Puriya D W Yazdanfard, Peter Oturai, Vibeke A Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen

المصدر: PLoS ONE, Vol 17, Iss 11, p e0277767 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/46f76d69a186404e998ffcca330b395a

المؤلفون: Diego F. Gauto, Pavel Macek, Duccio Malinverni, Hugo Fraga, Matteo Paloni, Iva Sučec, Audrey Hessel, Juan Pablo Bustamante, Alessandro Barducci, Paul Schanda

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/b700f5fa44c44071a611f4bfd200650f

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لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F. Hasholt, Flemming Wibrand, Soren S. Sorensen, Allan M. Lund, Lars Kober, Henning Bundgaard, Puriya D. W. Yazdanfard, Peter Oturai, Vibeke A. Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen

المصدر: Effraimidis, G, Rasmussen, Å K, Dunoe, M, Hasholt, L F, Wibrand, F, Sorensen, S S, Lund, A M, Kober, L, Bundgaard, H, Yazdanfard, P D W, Oturai, P, Larsen, V A, de Abreu, V H F, Enevoldsen, L H, Kristensen, T, Svenstrup, K, Bille, M B, Arif, F, Mogensen, M, Klokker, M, Backer, V, Kistorp, C & Feldt-Rasmussen, U 2022, ' Systematic cascade screening in the Danish Fabry Disease Centre : 20 years of a national single-centre experience ', PLoS ONE, vol. 17, no. 11, e0277767 . https://doi.org/10.1371/journal.pone.0277767

مصطلحات موضوعية: Male, Multidisciplinary, Genotype, alpha-Galactosidase, Denmark, Mutation, Humans, Fabry Disease, Female, Genetic Testing, Middle Aged

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9abf80b02ebe0321b2bbfd7d4f319e3
https://curis.ku.dk/ws/files/340540170/journal.pone.0277767.pdf

المؤلفون: Salvador Ventura, Hugo Fraga

المصدر: International Journal of Molecular Sciences, Vol 14, Iss 2, Pp 2916-2927 (2013)

مصطلحات موضوعية: cysteine motifs, disulfide bonds, Erv1, intermembrane space, Mia40, mitochondria, oxidative protein folding, protein import, oxidative stress, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: http://www.mdpi.com/1422-0067/14/2/2916; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/e9b8734ec5c84a9e8996912cc69ac4bf

المؤلفون: Juan Martínez-Oliván, Hugo Fraga, Xabier Arias-Moreno, Salvador Ventura, Javier Sancho

المصدر: PLoS ONE, Vol 10, Iss 7, p e0132141 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4500599?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/eef2f2bb5a974165b711c7c984b8366e