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Palovarotene approved as first treatment for fibrodysplasia ossificans progressiva (FOP) 帕罗瓦罗汀（Palovarotene）获批成为治疗渐进性纤维性骨质增生症（FOP）的首个疗法
Journal of Rare Diseases Pub Date : 2024-03-04 DOI: 10.1007/s44162-024-00032-3
Muhammad Talha, M. H. Ali
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引用次数: 0
Neurofibromatosis type 1 with three synchronous tumors 神经纤维瘤病 1 型伴有三个同步肿瘤
Journal of Rare Diseases Pub Date : 2024-02-05 DOI: 10.1007/s44162-024-00030-5
Shanavas Kakkat, G. S. Zacharia, Rohit Ravindran, Chothisha Poovan, Anu Jacob
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引用次数: 0
Neurofibromatosis type 1 with three synchronous tumors 神经纤维瘤病 1 型伴有三个同步肿瘤
Journal of Rare Diseases Pub Date : 2024-02-05 DOI: 10.1007/s44162-024-00030-5
Shanavas Kakkat, G. S. Zacharia, Rohit Ravindran, Chothisha Poovan, Anu Jacob
{"title":"Neurofibromatosis type 1 with three synchronous tumors","authors":"Shanavas Kakkat, G. S. Zacharia, Rohit Ravindran, Chothisha Poovan, Anu Jacob","doi":"10.1007/s44162-024-00030-5","DOIUrl":"https://doi.org/10.1007/s44162-024-00030-5","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"11 2","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2024-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139805656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction: Neuropathologic findings in a patient with Parry-Romberg syndrome: active cerebral vasculitis and brain injury 更正：帕里-罗姆伯格综合征患者的神经病理学发现：活动性脑血管炎和脑损伤
Journal of Rare Diseases Pub Date : 2024-01-31 DOI: 10.1007/s44162-024-00029-y
Edina A. Wappler-Guzzetta, Brian W. Hanak, Firas Bannout, Sheri L. Harder, Jeremy K. Deisch
{"title":"Correction: Neuropathologic findings in a patient with Parry-Romberg syndrome: active cerebral vasculitis and brain injury","authors":"Edina A. Wappler-Guzzetta, Brian W. Hanak, Firas Bannout, Sheri L. Harder, Jeremy K. Deisch","doi":"10.1007/s44162-024-00029-y","DOIUrl":"https://doi.org/10.1007/s44162-024-00029-y","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"60 ","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140471394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neuropathologic findings in a patient with Parry-Romberg syndrome: active cerebral vasculitis and brain injury 帕里-罗姆伯格综合征患者的神经病理学发现：活动性脑血管炎和脑损伤
Journal of Rare Diseases Pub Date : 2024-01-06 DOI: 10.1007/s44162-024-00027-0
Edina A. Wappler-Guzzetta, Brian W. Hanak, Firas Bannout, Sheri L. Harder, Jeremy K. Deisch
{"title":"Neuropathologic findings in a patient with Parry-Romberg syndrome: active cerebral vasculitis and brain injury","authors":"Edina A. Wappler-Guzzetta, Brian W. Hanak, Firas Bannout, Sheri L. Harder, Jeremy K. Deisch","doi":"10.1007/s44162-024-00027-0","DOIUrl":"https://doi.org/10.1007/s44162-024-00027-0","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"6 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139380531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
46,XX males with SRY gene translocation: cytogenetics and molecular characterization 患有 SRY 基因易位的 46,XX 男性：细胞遗传学和分子鉴定
Journal of Rare Diseases Pub Date : 2024-01-02 DOI: 10.1007/s44162-023-00025-8
Leena Rawal, Sindhu Prabhash, Ravinder Kumar, Gaurav Sharma, Mohd Shariq, Sumit Jangra, Reena Nakra, Vandana Lal, V. Thamtam
{"title":"46,XX males with SRY gene translocation: cytogenetics and molecular characterization","authors":"Leena Rawal, Sindhu Prabhash, Ravinder Kumar, Gaurav Sharma, Mohd Shariq, Sumit Jangra, Reena Nakra, Vandana Lal, V. Thamtam","doi":"10.1007/s44162-023-00025-8","DOIUrl":"https://doi.org/10.1007/s44162-023-00025-8","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"112 48","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139391297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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