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dc.contributor.authorPALAMAR ONAY, MELİS
dc.contributor.authorÖZDEMİR, BİNNAZ HANDAN
dc.contributor.authorTOPÇUOĞLU, MEHMET AKİF
dc.contributor.authorTufekcioglu, Omac
dc.contributor.authorEZGÜ, FATİH SÜHEYL
dc.contributor.authorALPSOY, ERKAN
dc.contributor.authorBicik Bahcebasi, Zerrin
dc.contributor.authorKasapcopur, Ozgur
dc.contributor.authorOnay, Huseyin
dc.date.accessioned2022-07-04T13:34:06Z
dc.date.available2022-07-04T13:34:06Z
dc.date.issued2022
dc.identifier.citationEZGÜ F. S. , ALPSOY E., Bicik Bahcebasi Z., Kasapcopur O., PALAMAR ONAY M., Onay H., ÖZDEMİR B. H. , TOPÇUOĞLU M. A. , Tufekcioglu O., "Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective", ORPHANET JOURNAL OF RARE DISEASES, cilt.17, sa.1, 2022
dc.identifier.issn1750-1172
dc.identifier.otherav_4f316e80-e611-4bf4-a678-51851cdc2675
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/182708
dc.identifier.urihttps://doi.org/10.1186/s13023-022-02215-x
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/4f316e80-e611-4bf4-a678-51851cdc2675/file
dc.description.abstractThis consensus statement by a panel of Fabry experts aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD. This consensus statement indicated the clinical heterogeneity of FD as well as a large number of pathogenic variants in the GLA gene, emphasizing a need for an individualized approach to patient care. The experts reached consensus on the critical role of a high index of suspicion in symptomatic patients and screening of certain at-risk groups to reveal timely and accurate diagnosis of FD along with an increased awareness of the treating physician about the different kinds of pathogenic variants and their clinical implications. The experts emphasized the crucial role of timely recognition of FD with minimal delay from symptom onset to definite diagnosis in better management of FD patients, given the likelihood of changing the disease's natural history, improving the patients' quality of life and the prognosis after enzyme replacement therapy (ERT) administered through a coordinated, multidisciplinary care approach. In this regard, this consensus document is expected to increase awareness among physicians about unique characteristics of FD to assist clinicians in recognizing FD with a well-established clinical suspicion consistent with pathogenic variants and gender-based heterogeneous clinical manifestations of FD and in translating this information into their clinical practice for best practice in the management of patients with FD.
dc.language.isoeng
dc.subjectGenetics (clinical)
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGenetics
dc.subjectMolecular Biology
dc.subjectReviews and References (medical)
dc.subjectResearch and Theory
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.titleExpert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective
dc.typeMakale
dc.relation.journalORPHANET JOURNAL OF RARE DISEASES
dc.contributor.departmentGazi Üniversitesi , Tıp Fakültesi , Dahili Tıp Bilimleri
dc.identifier.volume17
dc.identifier.issue1
dc.contributor.firstauthorID3398104


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