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المؤلفون: Ezgu, Fatih, Alpsoy, Erkan, Bicik Bahcebasi, Zerrin, Kasapcopur, Ozgur, Palamar, Melis, Onay, Huseyin, Ozdemir, Binnaz Handan
مصطلحات موضوعية: Fabry disease, Expert panel, Multidisciplinary approach, Enzyme-Replacement Therapy, Uncertain Diagnosis, Human Alpha-Galactosidase, Pathogenic variants, Awareness, Management, Natural-History Data, Clinical-Manifestations, Diagnosis, Screening, Cornea Verticillata, Involvement, Heterogeneity, Cardiac Manifestations, Renal-Disease, Neuropathic Pain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______9436::425addc9c3a3a8503e478ccadda27706Test
https://hdl.handle.net/11454/77825Test -
2مراجعة
المؤلفون: Alpsoy, Erkan, Ezgu, Fatih, Bicik Bahcebasi, Zerrin, Kasapcopur, Ozgur, Palamar, Melis, Onay, Huseyin, Ozdemir, Binnaz Handan
مصطلحات موضوعية: Expert panel, Fabry disease, Awareness, Screening, Diagnosis, Pathogenic variants, Heterogeneity, Management, Multidisciplinary approach, Enzyme-Replacement Therapy, Human Alpha-Galactosidase, Natural-History Data, Clinical-Manifestations, Cardiac Manifestations, Uncertain Diagnosis, Cornea Verticillata, Neuropathic Pain, Renal-Disease, Involvement
العلاقة: Orphanet Journal Of Rare Diseases; Diğer; https://hdl.handle.net/11454/77825Test; https://doi.org/10.1186/s13023-022-02215-xTest; Ozdemir, Binnaz Handan/0000-0002-7528-3557; Kasapcopur, Ozgur/0000-0002-1125-7720; Tufekcioglu, Omac/0000-0003-3478-9292; 17