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Journal of rare diseases (Berlin, Germany)最新文献

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Swyer syndrome: a rare cause of primary amenorrhea 斯威耶综合征:原发性闭经的罕见病因
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-09-01 DOI: 10.1007/s44162-023-00016-9
Ujjwala Sandilya, Sangam Jha
{"title":"Swyer syndrome: a rare cause of primary amenorrhea","authors":"Ujjwala Sandilya, Sangam Jha","doi":"10.1007/s44162-023-00016-9","DOIUrl":"https://doi.org/10.1007/s44162-023-00016-9","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41546449","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
Fibroadipose vascular anomaly successfully treated with sirolimus: experience in 3 children 西罗莫司成功治疗纤维脂肪性血管异常3例体会
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-08-04 DOI: 10.1007/s44162-023-00015-w
Aman Chaudhary, S. Rastogi, A. Goyal, A. Barwad, Swasthik Upadhya P.
{"title":"Fibroadipose vascular anomaly successfully treated with sirolimus: experience in 3 children","authors":"Aman Chaudhary, S. Rastogi, A. Goyal, A. Barwad, Swasthik Upadhya P.","doi":"10.1007/s44162-023-00015-w","DOIUrl":"https://doi.org/10.1007/s44162-023-00015-w","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41964030","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
A case report of unexplained persistent conjugated hyperbilirubinemia with normal liver transaminases over 23 years: remember Dubin-Johnson syndrome! 23年不明原因持续性结合性高胆红素血症伴正常肝转氨酶1例:记住杜宾-约翰逊综合征!
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-08-01 DOI: 10.1007/s44162-023-00014-x
Safeer Khan, Danish Ali, Sabi-ur Rehman
{"title":"A case report of unexplained persistent conjugated hyperbilirubinemia with normal liver transaminases over 23 years: remember Dubin-Johnson syndrome!","authors":"Safeer Khan, Danish Ali, Sabi-ur Rehman","doi":"10.1007/s44162-023-00014-x","DOIUrl":"https://doi.org/10.1007/s44162-023-00014-x","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45447586","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
Neuro-cognitive complications of nephropathic cystinosis 肾病性膀胱炎的神经认知并发症
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-07-01 DOI: 10.1007/s44162-023-00013-y
D. Trauner
{"title":"Neuro-cognitive complications of nephropathic cystinosis","authors":"D. Trauner","doi":"10.1007/s44162-023-00013-y","DOIUrl":"https://doi.org/10.1007/s44162-023-00013-y","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49541294","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
Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades 埃及戈谢病3型患者:一项跨越二十年的大型队列研究
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-06-01 DOI: 10.1007/s44162-023-00011-0
A. El‐Beshlawy, Khaled Abdel-Azim, A. Abdel-Salam, Yasmeen Selim, Fadwa Said, Nadine A. Gebril, E. Fateen, P. Mistry
{"title":"Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades","authors":"A. El‐Beshlawy, Khaled Abdel-Azim, A. Abdel-Salam, Yasmeen Selim, Fadwa Said, Nadine A. Gebril, E. Fateen, P. Mistry","doi":"10.1007/s44162-023-00011-0","DOIUrl":"https://doi.org/10.1007/s44162-023-00011-0","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47249258","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
A brief insight into the rare diseases in Egypt 埃及罕见病简介
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-05-01 DOI: 10.1007/s44162-023-00010-1
Tarek Taha, Dina Ahmed, Zaynab El-Gammal, Gehad Atef Oura, S. Elshenawy, Yasmine Gaber, Tarek Elnagdy, Khaled Amer
{"title":"A brief insight into the rare diseases in Egypt","authors":"Tarek Taha, Dina Ahmed, Zaynab El-Gammal, Gehad Atef Oura, S. Elshenawy, Yasmine Gaber, Tarek Elnagdy, Khaled Amer","doi":"10.1007/s44162-023-00010-1","DOIUrl":"https://doi.org/10.1007/s44162-023-00010-1","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44505790","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: 1
Three-dimensional radiographic features of craniometaphyseal dysplasia—a comparative CBCT study 颅骨干骺端发育不良的三维影像学特征——CBCT对比研究
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-04-03 DOI: 10.1007/s44162-023-00009-8
K. S. Muttanahally, I. Chen, E. Reichenberger, A. Tadinada, A. Vaddi
{"title":"Three-dimensional radiographic features of craniometaphyseal dysplasia—a comparative CBCT study","authors":"K. S. Muttanahally, I. Chen, E. Reichenberger, A. Tadinada, A. Vaddi","doi":"10.1007/s44162-023-00009-8","DOIUrl":"https://doi.org/10.1007/s44162-023-00009-8","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48422456","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
Acute intermittent porphyria and spinal muscular atrophy: two rare diseases seen in one patient 急性间歇性卟啉症和脊髓性肌萎缩：一例患者的两种罕见疾病
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-03-01 DOI: 10.1007/s44162-023-00007-w
Sude Çavdaroğlu, Ilayda Altun, Elif Bilge Atasay, Gulshan Yunisova, P. Oflazer, G. Sezgin
{"title":"Acute intermittent porphyria and spinal muscular atrophy: two rare diseases seen in one patient","authors":"Sude Çavdaroğlu, Ilayda Altun, Elif Bilge Atasay, Gulshan Yunisova, P. Oflazer, G. Sezgin","doi":"10.1007/s44162-023-00007-w","DOIUrl":"https://doi.org/10.1007/s44162-023-00007-w","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43503173","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
Luteolin promotes KAT6A gene expression 木犀草素促进KAT6A基因表达
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-02-22 DOI: 10.1007/s44162-023-00008-9
P. Brun, M. Dettin, R. Vettor
{"title":"Luteolin promotes KAT6A gene expression","authors":"P. Brun, M. Dettin, R. Vettor","doi":"10.1007/s44162-023-00008-9","DOIUrl":"https://doi.org/10.1007/s44162-023-00008-9","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":" ","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2023-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48408566","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
Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants 双等位基因PKHD1致病变异体继发的可变肾脏和肝脏表型的成人表现
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-01-02 DOI: 10.1007/s44162-022-00002-7
Ananya Das, P. Mead, J. Sayer
{"title":"Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants","authors":"Ananya Das, P. Mead, J. Sayer","doi":"10.1007/s44162-022-00002-7","DOIUrl":"https://doi.org/10.1007/s44162-022-00002-7","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2023-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43741146","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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