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

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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
Many lessons still to learn about autosomal dominant polycystic kidney disease. 关于常染色体显性遗传性多囊肾病还有很多值得学习的地方。
Journal of rare diseases (Berlin, Germany) Pub Date : 2023-01-01 Epub Date: 2023-09-01 DOI: 10.1007/s44162-023-00017-8
Sarah Orr, John A Sayer
{"title":"Many lessons still to learn about autosomal dominant polycystic kidney disease.","authors":"Sarah Orr, John A Sayer","doi":"10.1007/s44162-023-00017-8","DOIUrl":"10.1007/s44162-023-00017-8","url":null,"abstract":"<p><p>We are still learning the genetic basis for many rare diseases. Here we provide a commentary on the analysis of the genetic landscape of patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD), one of the most common genetic kidney diseases. Approaches including both phenotype first and genotype first allows some interesting and informative observations within this disease population. <i>PKD1</i> and <i>PKD2</i> are the most frequent genetic causes of ADPKD accounting for 78% and 15% respectively, whilst around 7-8% of cases have an alternative genetic diagnosis. These rarer forms include <i>IFT140</i>, <i>GANAB</i>, <i>PKHD1</i>, <i>HNF1B</i>, <i>ALG8</i>, and <i>ALG9</i>. Some previously reported likely pathogenic <i>PKD1</i> and <i>PKD2</i> alleles may have a reduced penetrance, or indeed may have been misclassified in terms of their pathogenicity. This recent data concerning all forms of ADPKD points to the importance of performing genetics tests in all families with a clinical diagnosis of ADPKD as well as those with more atypical cystic kidney appearances. Following allele identification, performing segregation analysis wherever possible remains vital so that we continue to learn about these important genetic causes of kidney failure.</p>","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":"2 1","pages":"13"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10155751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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