المؤلفون: Huan Zhou, Siqing Wang, Yilin Chen, Dandan Yang, Yi Tang, Jiaxing Tan, Wei Qin

المصدر: Kidney & Blood Pressure Research, Vol 49, Iss 1, Pp 799-811 (2024)

مصطلحات موضوعية: fabry disease, gla gene, variants of unknown significance, immunoglobulin a nephropathy, Dermatology, RL1-803, Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://beta.karger.com/Article/FullText/541207; https://doaj.org/toc/1423-0143

URL الوصول: https://doaj.org/article/3948c7a6ee924cb38502a3edcc9059fb

المؤلفون: Weili Cheng, Mingqiang Ao, Dinghu Xu, Yuqing Zhang, Qin Tao

المصدر: Frontiers in Cardiovascular Medicine, Vol 11 (2024)

مصطلحات موضوعية: case report, Fabry disease, GLA gene, enzyme replacement therapy, prognosis, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcvm.2024.1479374/full; https://doaj.org/toc/2297-055X

URL الوصول: https://doaj.org/article/b8bcdaaf63fb4791bacf177a04ee17c3

المؤلفون: Olga Ya. Smirnova, Nato D. Vashakmadze, Maria S. Karaseva, Natalia V. Zhurkova, Anna Yu. Rachkova, Leyla S. Namazova-Baranova

المصدر: Вопросы современной педиатрии, Vol 23, Iss 1, Pp 6-12 (2024)

مصطلحات موضوعية: fabry disease, gla gene, α-galactosidase а, lyso-gb3, childhood, neuropathic pain, acroparesthesia, angiokeratoma, hyphidrosis, vortex keratopathy, agalsidase alpha, agalsidase beta, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://vsp.spr-journal.ru/jour/article/view/3394; https://doaj.org/toc/1682-5527; https://doaj.org/toc/1682-5535

URL الوصول: https://doaj.org/article/321c1dc2edfe441f83736bda0fa6bcef

المؤلفون: Dutra-Clarke, Marina, Tapia, Daisy, Curtin, Emily, Rünger, Dennis, Lee, Grace K, Lakatos, Anita, Alandy-Dy, Zyza, Freedkin, Linda, Hall, Kathy, Ercelen, Nesrin, Alandy-Dy, Jousef, Knight, Margaret, Pahl, Madeleine, Lombardo, Dawn, Kimonis, Virginia

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Peripheral Neuropathy, Pain Research, Orphan Drug, Neurodegenerative, Pediatric, Kidney Disease, Neurosciences, Chronic Pain, Rare Diseases, Biotechnology, Fabry disease, Enzyme replacement therapy, Agalsidase beta, Globotriaosylceramide, GL-3, GLA gene, Biochemistry and Cell Biology, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3hr6979k
https://escholarship.org/content/qt3hr6979k/qt3hr6979k.pdf

المؤلفون: Romani I., Sarti C., Nencini P., Pracucci G., Zedde M., Cianci V., Nucera A., Moller J., Orsucci D., Toni D., Palumbo P., Casella C., Pinto V., Barbarini L., Bella R., Scoditti U., Ragno M., Mezzapesa D. M., Tassi R., Volpi G., Diomedi M., Bigliardi G., Cavallini A. M., Chiti A., Ricci S., Cecconi E., Linoli G., Sacco S., Rasura M., Giordano A., Bonetti B., Melis M., Cariddi L. P., Dossi R. C., Grisendi I., Aguglia U., Di Ruzza M. R., Sbardella E., Vista M., Valenti R., Musolino R. F., Passarella B., Direnzo V., Pennisi G., Genovese A., Di Marzio F., Sgobio R., Acampa M., Nannucci S., Dagostino F., Dell'Acqua M. L., Cuzzoni M. G., Picchioni A., Calchetti B., Notturno F., Di Lisi F., Forlivesi S., Delodovici M. L., Buechner S. C., Biagini S., Accavone D., Manna R., Morrone A., Inzitari D.

المساهمون: Romani, I., Sarti, C., Nencini, P., Pracucci, G., Zedde, M., Cianci, V., Nucera, A., Moller, J., Orsucci, D., Toni, D., Palumbo, P., Casella, C., Pinto, V., Barbarini, L., Bella, R., Scoditti, U., Ragno, M., Mezzapesa, D. M., Tassi, R., Volpi, G., Diomedi, M., Bigliardi, G., Cavallini, A. M., Chiti, A., Ricci, S., Cecconi, E., Linoli, G., Sacco, S., Rasura, M., Giordano, A., Bonetti, B., Melis, M., Cariddi, L. P., Dossi, R. C., Grisendi, I., Aguglia, U., Di Ruzza, M. R., Sbardella, E., Vista, M., Valenti, R., Musolino, R. F., Passarella, B., Direnzo, V., Pennisi, G., Genovese, A., Di Marzio, F., Sgobio, R., Acampa, M., Nannucci, S., Dagostino, F., Dell'Acqua, M. L., Cuzzoni, M. G., Picchioni, A., Calchetti, B., Notturno, F., Di Lisi, F., Forlivesi, S., Delodovici, M. L., Buechner, S. C., Biagini, S., Accavone, D., Manna, R., Morrone, A., Inzitari, D.

مصطلحات موضوعية: Fabry disease, GLA gene variant, Monogenic causes of stroke, Screening for Fabry disease, Stroke in young adults

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38295534; info:eu-repo/semantics/altIdentifier/wos/WOS:001180018400001; volume:457; firstpage:1; lastpage:9; numberofpages:9; journal:JOURNAL OF THE NEUROLOGICAL SCIENCES; https://hdl.handle.net/11365/1260844; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85184063779; https://www.sciencedirect.com/science/article/pii/S0022510X24000406

الاتاحة: https://hdl.handle.net/11365/1260844
https://doi.org/10.1016/j.jns.2024.122905
https://www.sciencedirect.com/science/article/pii/S0022510X24000406

المؤلفون: Angelini, Chloé, Bar, Claire, Baudier, Marie Pierre, Fergelot, Patricia, Lancelot, Gwenaëlle, Rooryck, Caroline, Germain, Dominique P., Jabbour, Firas, Blanchet, Anne Sophie, Cauchie, Alexandre, Sarrazin, Elizabeth, Bellance, Rémi, Lefaucheur, Jean Pascal, Bismuth, Julie, Ranque-Garnier, Stéphanie, Corand, Virginie, Coupry, Isabelle, Goizet, Cyril

المساهمون: Université de Bordeaux (UB), CHU de Bordeaux Pellegrin Bordeaux, Institut de Neurosciences cognitives et intégratives d'Aquitaine (INCIA), Université Bordeaux Segalen - Bordeaux 2-Université Sciences et Technologies - Bordeaux 1 (UB)-SFR Bordeaux Neurosciences-Centre National de la Recherche Scientifique (CNRS), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP. Université Paris Saclay, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre Hospitalier Universitaire de Martinique Fort-de-France, Martinique (CHU de Martinique), Hôpital Henri Mondor, Excitabilité nerveuse et thérapeutique (ENT), Hôpital Henri Mondor-EA 4391, Service de Physiologie Explorations Fonctionnelles-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital de la Timone CHU - APHM (TIMONE), SANOFI, DOUFABIS Consortium: Myriam Cadenne, Anne-Sophie Blanchet, Sylvie Berciaud, Alexandre Cauchie, Virginie Corand, Laurence David, Nathalie Cantagrel, Stéphanie Ranque-Garnier, Maud Martial, Géraldine De Montgazon, Caroline Maindet-Dominici, Eric Salvat, Elizabeth Sarrazin, Rémi Bellance, Jean-Michel Wattier, Stéphanie Roggerone, Virgine Piano, Jean-Pascal Lefaucheur, Julie Bismuth, Marc Sorel

المصدر: ISSN: 1090-3801.

مصطلحات موضوعية: Fabry disease, DOUFAB, DOUFABIS studies, GLA gene, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/39099234; PUBMED: 39099234

الاتاحة: https://hal.science/hal-04777996
https://hal.science/hal-04777996v1/document
https://hal.science/hal-04777996v1/file/European%20Journal%20of%20Pain%20-%202024%20-%20Angelini%20-%20Prevalence%20of%20Fabry%20disease%20in%20patients%20with%20chronic%20pain%20%20Lessons%20from%20the.pdf
https://doi.org/10.1002/ejp.4708

المؤلفون: Giovanni Duro, Monia Anania, Carmela Zizzo, Daniele Francofonte, Irene Giacalone, Annalisa D’Errico, Emanuela Maria Marsana, Paolo Colomba

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 10, p 5158 (2024)

مصطلحات موضوعية: Fabry disease, GLA gene, α-galactosidase A, LysoGb3, lyonization, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/10/5158; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/c7ee227d6c6643f0b54a0cd312af4782

الاتاحة: https://doi.org/10.3390/ijms25105158
https://doaj.org/article/c7ee227d6c6643f0b54a0cd312af4782

المؤلفون: Xuantong Dai, Xue Zong, Xiaoxia Pan, Wei Lu, Geng-Ru Jiang, Fujun Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Fabry disease, Renal variant, Podocyte, GLA gene, Deep intronic mutation, α-Galactosidase A, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c272c5c683c74a5fbf594c75b1e12fab

المؤلفون: Xin Chen, Hezhi Li, Hongtao Liao, Xianzhang Zhan, Zhian Zhong, Qianhuan Zhang, Lie Liu, Yuanhong Liang, Hai Deng, Xianhong Fang, Yumei Xue, Shulin Wu, Yang Liu

المصدر: ESC Heart Failure, Vol 8, Iss 6, Pp 5436-5444 (2021)

مصطلحات موضوعية: Fabry disease, GLA gene, Left ventricular hypertrophy, Renal insufficiency, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2055-5822

URL الوصول: https://doaj.org/article/084a5b90b8174f61b0fa80e0d9867728

المؤلفون: de Haan, Amber, Morel, Chantal F., Eijgelsheim, Mark, de Jong, Margriet F.C., Broekroelofs, Jan, Vogt, Liffert, Knoers, Nine V.A.M., de Borst, Martin H.

المصدر: de Haan , A , Morel , C F , Eijgelsheim , M , de Jong , M F C , Broekroelofs , J , Vogt , L , Knoers , N V A M & de Borst , M H 2023 , ' Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure ' , Clinical Kidney Journal , vol. 16 , no. 4 , pp. 722-726 . https://doi.org/10.1093/ckj/sfac269

مصطلحات موضوعية: chronic kidney disease, Fabry disease, GLA gene, kidney failure, massively parallel sequencing

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/fead96b0-0272-48b7-98d9-9d5d652095ff
https://research.rug.nl/en/publications/fead96b0-0272-48b7-98d9-9d5d652095ff
https://doi.org/10.1093/ckj/sfac269
https://pure.rug.nl/ws/files/869139762/Fabry_disease_with_atypical_phenotype_identified_by_massively_parallel_sequencing_in_early-onset_kidney_failure.pdf
http://www.scopus.com/inward/record.url?scp=85169886101&partnerID=8YFLogxK

المؤلفون: Raafiah Izhar, Margherita Borriello, Antonella La Russa, Rossella Di Paola, Ananya De, Giovambattista Capasso, Diego Ingrosso, Alessandra F. Perna, Mariadelina Simeoni

المصدر: Genes, Vol 15, Iss 1, p 37 (2023)

مصطلحات موضوعية: Fabry disease, GLA gene, genetic basis, X-chromosome inactivation, clinical manifestations, therapies, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/1/37; https://doaj.org/toc/2073-4425; https://doaj.org/article/f6bcd542bc544f9e954dcc394cd67571

الاتاحة: https://doi.org/10.3390/genes15010037
https://doaj.org/article/f6bcd542bc544f9e954dcc394cd67571

المؤلفون: Carmen Muntean, Iuliana Magdalena Starcea, Cristina Stoica, Claudia Banescu

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: Fabry, kidney, GLA gene, biomarker, therapy, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.1045199/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/161a368ac10a4df59407ade3e30b93a8

المؤلفون: Rosa Neto, Nilton Salles, Bento, Judith Campos de Barros, Caparbo, Valéria de Falco, Pereira, Rosa Maria Rodrigues

المصدر: Clinics. January 2021 76

مصطلحات موضوعية: Fabry Disease, GLA Gene, Inflammation, Mainz Severity Score Index, Cytokine

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322021000100289

المؤلفون: Carmen Muntean, Iuliana Magdalena Starcea, Cristina Stoica, Claudia Banescu

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: Fabry, kidney, GLA gene, biomarker, therapy, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.908657/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/5d1e3c859b354c44b930a24828559cf3

المؤلفون: Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Fabry disease, High-risk screening, α-Galactosidase a, GLA gene, Novel variants, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01494-6; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8062074bac414e27a9ff64361383c3cc

المؤلفون: Hasani Hewavitharana, Eresha Jasinge, Hiranya Abeysekera, Jithangi Wanigasinghe

المصدر: BMC Pediatrics, Vol 20, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Fabry disease, α-Galactosidase A, Cornea Verticillata, GLA gene, Case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-020-02237-z; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/b398c307324743a482c0a24bb1867ed6

المؤلفون: Amodio, Federica, Caiazza, Martina, Monda, Emanuele, Rubino, Marta, Capodicasa, Laura, Chiosi, Flavia, Simonelli, Vincenzo, Dongiglio, Francesca, Fimiani, Fabio, Pepe, Nicola, Chimenti, Cristina, Calabrò, Paolo, Limongelli, Giuseppe

المساهمون: Amodio, Federica, Caiazza, Martina, Monda, Emanuele, Rubino, Marta, Capodicasa, Laura, Chiosi, Flavia, Simonelli, Vincenzo, Dongiglio, Francesca, Fimiani, Fabio, Pepe, Nicola, Chimenti, Cristina, Calabrò, Paolo, Limongelli, Giuseppe

مصطلحات موضوعية: fabry disease, GLA gene, biomarker, mutation, α-galactosidase A

Relation: info:eu-repo/semantics/altIdentifier/pmid/36291669; info:eu-repo/semantics/altIdentifier/wos/WOS:000872334500001; volume:12; issue:10; numberofpages:15; journal:BIOMOLECULES; https://hdl.handle.net/11573/1681150; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85140430915

الاتاحة: https://hdl.handle.net/11573/1681150
https://doi.org/10.3390/biom12101460

المؤلفون: Rosa Neto, Nilton Salles, Bento, Judith Campos de Barros, Pereira, Rosa Maria Rodrigues

المصدر: Advances in Rheumatology. January 2020 60

مصطلحات موضوعية: Fabry disease, GLA gene, Misdiagnosis, Diagnostic delay, Rheumatology, Genetic variants of unknown significance

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2523-31062020000100204

المؤلفون: Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins, João B. Pesquero

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Fabry disease, GLA gene, Non-coding haplotypes, Molecular diagnosis, α-Galactosidase A activity, DBS enzymatic activity, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/9a7dc0be8c6041e5b97f74e6d93ed7cd

المؤلفون: Ruixiao Zhang, Zeqing Chen, Yanhua Lang, Shihong Shao, Yan Cai, Qingqing You, Yan Sun, Sai Wang, Xiaomeng Shi, Zhiying Liu, Wencong Guo, Yue Han, Leping Shao

المصدر: Renal Failure, Vol 42, Iss 1, Pp 958-965 (2020)

مصطلحات موضوعية: fabry disease, gla gene, immunosuppressive treatment, nephrotic syndrome, variant, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0886-022X; https://doaj.org/toc/1525-6049

URL الوصول: https://doaj.org/article/840047d4262445f3ba65f9c3fa94869d