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1دورية أكاديمية
المؤلفون: Aladağ N, Ali Barman H, Şipal A, Akbulut T, Özdemir M, Ceylaner S
المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 1, Pp 43-50 (2023)
مصطلحات موضوعية: unexplained left ventricular hypertrophy, fabry disease, gla mutation, polymorphism, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2199-5761Test
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2دورية أكاديمية
المؤلفون: Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
المصدر: JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)
مصطلحات موضوعية: chronic renal failure, Fabry disease, GLA mutation, hypertrophic cardiomyopathy, late onset, stroke, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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3دورية أكاديمية
المؤلفون: Sebastian Militaru, Robert Adam, Lucian Dorobantu, Paolo Ferrazzi, Maria Iascone, Viorica Radoi, Gener Ismail, Bogdan A. Popescu, Ruxandra Jurcut
المصدر: Anatolian Journal of Cardiology, Vol 22, Iss 3, Pp 154-158 (2019)
مصطلحات موضوعية: fabry disease, hypertrophic obstructive cardiomyopathy, gla mutation, myectomy, intrafamilial variability, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=anatoljcardiol&un=AJC-47969Test; https://doaj.org/toc/2149-2263Test
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4دورية أكاديمية
المؤلفون: Massimiliano Veroux, Ines Monte, Margherita Rodolico, Daniela Corona, Rita Bella, Antonio Basile, Stefano Palmucci, Maria Pistorio, Giuseppe Lanza, Concetta De Pasquale, Pierfrancesco Veroux, on behalf of “Multidisciplinary Research Center for the diagnosis and treatment of Fabry Disease and for Organ Transplantation
المصدر: Biomedicines; Volume 8; Issue 10; Pages: 396
مصطلحات موضوعية: kidney transplantation, Fabry disease, Fabry nephropathy, screening, multidisciplinary team, Lyso Gb3, GLA mutation, D313Y, F113L, D165H, S126G
وصف الملف: application/pdf
العلاقة: Cell Biology and Pathology; https://dx.doi.org/10.3390/biomedicines8100396Test
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5دورية أكاديمية
المؤلفون: Nowak, A, Mechtler, TP, Hornemann, T, Gawinecka, J, Theswet, E, Hilz, MJ, Kasper, DC
المصدر: Molecular Genetics and Metabolism , 123 (2) pp. 148-153. (2018)
مصطلحات موضوعية: Fabry disease, GLA-mutation, LysoGb3, Biomarker, Genotype phenotype relation, Disease severity
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1568463/1/Hilz_genotype%20phenotype%20and%20disease_Fabry_.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1568463Test/
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6
المؤلفون: Sumita Danda, Ishwar Chander Verma, Neerja Gupta, Ravinder Makkar, Prajnya Ranganath, Hisham Ahamed, Ashwin Dalal, Meenakshi Bhat, Madhulika Kabra, Uma Ramaswami, Sunita Bijarnia-Mahay, Akella Radha Rama Devi, Amrita Bhattacherjee, Ratna Dua Puri, Shubha R. Phadke, Sheela Nampoothiri, Dhanya Yesodharan, Sujatha Jagadeesh, Kausik Mandal, Padmavathy Narayana Sylaja
المصدر: JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)
JIMD Reportsمصطلحات موضوعية: Research Report, medicine.medical_specialty, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Left ventricular hypertrophy, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), chronic renal failure, Internal medicine, Genotype, Internal Medicine, Medicine, late onset, Stroke, GLA mutation, Fabry disease, lcsh:RC648-665, business.industry, Hypertrophic cardiomyopathy, Research Reports, Enzyme replacement therapy, hypertrophic cardiomyopathy, medicine.disease, stroke, lcsh:Genetics, Neuropathic pain, Cohort, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3061559a80a32447797f36ae406873edTest
https://doi.org/10.1002/jmd2.12156Test -
7دورية أكاديمية
المؤلفون: Lenders, Malte, Weidemann, Frank, Kurschat, Christine, Canaan-Kühl, Sima, Duning, Thomas, Stypmann, Jörg, Schmitz, Boris, Reiermann, Stefanie, Krämer, Johannes, Blaschke, Daniela, Wanner, Christoph, Brand, Stefan-Martin, Brand, Eva
مصطلحات موضوعية: Fabry disease, Lyso-Gb3, Variant of unknown significance, Late-onset, GLA mutation, Stroke, Genotype, ddc:610
وصف الملف: 9 S.; application/pdf
العلاقة: https://refubium.fu-berlin.de/handle/fub188/16131Test; http://dx.doi.org/10.17169/refubium-20315Test
الإتاحة: https://doi.org/10.17169/refubium-20315Test
https://doi.org/10.1186/s13023-016-0441-zTest
https://refubium.fu-berlin.de/handle/fub188/16131Test -
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المؤلفون: Matteo Prencipe, G Gabbriellini, Chiara Posarelli, Michele Figus
المصدر: European Journal of Ophthalmology. 31:NP53-NP57
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, small fiber neuropathy, In vivo confocal microscopy, Confocal, Nerve fiber, 03 medical and health sciences, 0302 clinical medicine, In vivo, Gla gene, medicine, cornea verticillata, Cornea verticillata, Fabry disease, business.industry, General Medicine, medicine.disease, G171S GLA mutation, Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, Mutation (genetic algorithm), 030221 ophthalmology & optometry, in vivo confocal microscopy, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ef1877d713cc092330f4688467b6f71Test
https://doi.org/10.1177/1120672120939496Test -
9
المؤلفون: Maria Iascone, Sebastian Militaru, Ruxandra Jurcut, Paolo Ferrazzi, Robert Adam, Gener Ismail, Bogdan A. Popescu, Viorica Radoi, Lucian Dorobantu
المصدر: Anatolian Journal of Cardiology
Anatolian Journal of Cardiology, Vol 22, Iss 3, Pp 154-158 (2019)مصطلحات موضوعية: lcsh:Diseases of the circulatory (Cardiovascular) system, medicine.medical_specialty, intrafamilial variability, Case Report, Disease, Diagnosis, Differential, hypertrophic obstructive cardiomyopathy, medicine, Humans, Genetic Predisposition to Disease, myectomy, Stroke, X chromosome, Proteinuria, business.industry, Hypertrophic cardiomyopathy, Middle Aged, medicine.disease, Fabry disease, Dermatology, Angiokeratoma, Pedigree, lcsh:RC666-701, Echocardiography, gla mutation, Fabry Disease, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61145a2b49de961e7862883b773c263Test
http://europepmc.org/articles/PMC6735429Test -
10دورية أكاديمية
المؤلفون: Prencipe M., Posarelli C., Figus M., Gabbriellini G.
المساهمون: Prencipe, M., Posarelli, C., Figus, M., Gabbriellini, G.
مصطلحات موضوعية: cornea verticillata, Fabry disease, G171S GLA mutation, in vivo confocal microscopy, small fiber neuropathy
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32586128; info:eu-repo/semantics/altIdentifier/wos/WOS:000544003200001; firstpage:1120672120939496; numberofpages:5; journal:EUROPEAN JOURNAL OF OPHTHALMOLOGY; http://hdl.handle.net/11568/1047218Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086881888