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| http://dx.doi.org/10.1038/s41436-021-01279-7 | DOI Listing |
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Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.
Orphanet J Rare Dis
December 2024
Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany.
Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.
Results: Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41).
Transconjunctival Orbital Decompression in Cherubism.
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December 2024
Department of Ophthalmology, School of Medicine of Ribeirão Preto, University of São Paulo.
Cherubism is a rare fibro-osseous disease characterized by the progressive expansion of the mandible and maxilla during childhood. Orbital involvement occurs in a subset of patients and is clinically manifested as upward displacement of the affected eye. The bony changes tend to spontaneously diminish or even regress after puberty.
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Department of Ultrasound Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei, China.
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Surgical treatment of Gorham-Stout disease combined with scoliosis: a case report and literature review.
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Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People's Republic of China.
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Azerbaijan Medical University, Department of Obstetrics and Gynecology II, Baku, Azerbaijan.
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