发布求助
文献互助 智能选刊 最新文献

Journal of Rare Diseases最新文献

筛选
英文 中文
Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity 伍德豪斯-萨卡蒂综合征：基因型-表型回顾和家族内异质性病例
Journal of Rare Diseases Pub Date : 2024-07-23 DOI: 10.1007/s44162-024-00045-y
Victor Wakim, Mohammad El Dassouki, Ahlam Azar, Abeer Hani, C. Mehawej, Eliane Chouery, Marie-Jeanne Baroudi, Gerard Wakim
{"title":"Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity","authors":"Victor Wakim, Mohammad El Dassouki, Ahlam Azar, Abeer Hani, C. Mehawej, Eliane Chouery, Marie-Jeanne Baroudi, Gerard Wakim","doi":"10.1007/s44162-024-00045-y","DOIUrl":"https://doi.org/10.1007/s44162-024-00045-y","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"15 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141810146","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
Dental management of Fanconi anemia: a rare congenital disorder 范可尼贫血症的牙科治疗：一种罕见的先天性疾病
Journal of Rare Diseases Pub Date : 2024-07-10 DOI: 10.1007/s44162-024-00050-1
Jacqueline Jacinta Dias, Ankit Gupta, A. K. Shreehari
{"title":"Dental management of Fanconi anemia: a rare congenital disorder","authors":"Jacqueline Jacinta Dias, Ankit Gupta, A. K. Shreehari","doi":"10.1007/s44162-024-00050-1","DOIUrl":"https://doi.org/10.1007/s44162-024-00050-1","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"43 2","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141660271","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
Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant 带有新型 NPC1 变体的 C 型尼曼-皮克病的临床和遗传分析
Journal of Rare Diseases Pub Date : 2024-07-08 DOI: 10.1007/s44162-024-00043-0
Mostafa Neissi, A. Al-Badran, Misagh Mohammadi-Asl, R. Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, J. Mohammadi-Asl
{"title":"Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant","authors":"Mostafa Neissi, A. Al-Badran, Misagh Mohammadi-Asl, R. Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, J. Mohammadi-Asl","doi":"10.1007/s44162-024-00043-0","DOIUrl":"https://doi.org/10.1007/s44162-024-00043-0","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"11 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141667934","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 rare case report of the Cowden syndrome 一份罕见的考登综合征病例报告
Journal of Rare Diseases Pub Date : 2024-07-01 DOI: 10.1007/s44162-024-00039-w
Sayyed Mahiboob, Rajesh Gupta
{"title":"A rare case report of the Cowden syndrome","authors":"Sayyed Mahiboob, Rajesh Gupta","doi":"10.1007/s44162-024-00039-w","DOIUrl":"https://doi.org/10.1007/s44162-024-00039-w","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"4 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141709272","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
Cystinosis — a review of disease pathogenesis, management, and future treatment options 膀胱阴道炎--疾病发病机制、管理和未来治疗方案综述
Journal of Rare Diseases Pub Date : 2024-06-10 DOI: 10.1007/s44162-024-00041-2
Lauren Devitt
{"title":"Cystinosis — a review of disease pathogenesis, management, and future treatment options","authors":"Lauren Devitt","doi":"10.1007/s44162-024-00041-2","DOIUrl":"https://doi.org/10.1007/s44162-024-00041-2","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"117 31","pages":"1-12"},"PeriodicalIF":0.0,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141362821","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
FDrisk as an accessible and user-friendly tool aimed at promoting earlier diagnosis: a complement to clinical suspicion in Fabry disease FDrisk 作为一种方便易用的工具，旨在促进早期诊断：对法布里病临床怀疑的补充
Journal of Rare Diseases Pub Date : 2024-06-01 DOI: 10.1007/s44162-024-00038-x
Magali Margaria, Roberto Margaria, Jorgelina Stegmann, Juan Manuel Politei
{"title":"FDrisk as an accessible and user-friendly tool aimed at promoting earlier diagnosis: a complement to clinical suspicion in Fabry disease","authors":"Magali Margaria, Roberto Margaria, Jorgelina Stegmann, Juan Manuel Politei","doi":"10.1007/s44162-024-00038-x","DOIUrl":"https://doi.org/10.1007/s44162-024-00038-x","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"19 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141279099","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
The role of physical medicine and rehabilitation in the management of a pediatric female with Möbius syndrome: a case report 物理医学和康复在治疗一名患有莫比乌斯综合征的儿科女性患者中的作用：病例报告
Journal of Rare Diseases Pub Date : 2024-05-06 DOI: 10.1007/s44162-024-00037-y
Y. Al-Ajlouni, Maysa Lihaz, Mohammad Islam
{"title":"The role of physical medicine and rehabilitation in the management of a pediatric female with Möbius syndrome: a case report","authors":"Y. Al-Ajlouni, Maysa Lihaz, Mohammad Islam","doi":"10.1007/s44162-024-00037-y","DOIUrl":"https://doi.org/10.1007/s44162-024-00037-y","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"318 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141006781","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
Brief title of the study case report: a case of type II sacral agenesis with no neurogenic dysfunction 研究报告简要标题：一例无神经源性功能障碍的 II 型骶骨发育不全病例
Journal of Rare Diseases Pub Date : 2024-05-01 DOI: 10.1007/s44162-024-00035-0
Zuhera Khan, Munazza Saleem
{"title":"Brief title of the study case report: a case of type II sacral agenesis with no neurogenic dysfunction","authors":"Zuhera Khan, Munazza Saleem","doi":"10.1007/s44162-024-00035-0","DOIUrl":"https://doi.org/10.1007/s44162-024-00035-0","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"20 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141036054","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
The effects of burosumab on growth, nephrocalcinosis and cardiovascular outcomes in children with X-linked hypophosphatemia: a single-center experience 布罗苏单抗对X连锁低磷血症患儿生长、肾钙化和心血管预后的影响：单中心经验
Journal of Rare Diseases Pub Date : 2024-04-03 DOI: 10.1007/s44162-024-00034-1
Bettyna Olivotto, Eliane Djatougbé Akolly, Sarah Cabet, Sacha Flammier, A. Bertholet-Thomas, Aurélie Mul, Justine Bacchetta
{"title":"The effects of burosumab on growth, nephrocalcinosis and cardiovascular outcomes in children with X-linked hypophosphatemia: a single-center experience","authors":"Bettyna Olivotto, Eliane Djatougbé Akolly, Sarah Cabet, Sacha Flammier, A. Bertholet-Thomas, Aurélie Mul, Justine Bacchetta","doi":"10.1007/s44162-024-00034-1","DOIUrl":"https://doi.org/10.1007/s44162-024-00034-1","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"17 5","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140747770","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
Mucormycosis: a rare forgotten but fatal disease—a case report and literature review 粘孢子菌病：一种罕见的被遗忘的致命疾病--病例报告和文献综述
Journal of Rare Diseases Pub Date : 2024-04-01 DOI: 10.1007/s44162-024-00033-2
Subira Bhoke Matiku, G. Murenzi, Idd Shaban, Augustine Muhiza Msonge, Ajuna Enock Kamafa, Daniel W. Kitua, Asteria H Kimambo, A. Mwakigonja, E. Massawe
{"title":"Mucormycosis: a rare forgotten but fatal disease—a case report and literature review","authors":"Subira Bhoke Matiku, G. Murenzi, Idd Shaban, Augustine Muhiza Msonge, Ajuna Enock Kamafa, Daniel W. Kitua, Asteria H Kimambo, A. Mwakigonja, E. Massawe","doi":"10.1007/s44162-024-00033-2","DOIUrl":"https://doi.org/10.1007/s44162-024-00033-2","url":null,"abstract":"","PeriodicalId":515652,"journal":{"name":"Journal of Rare Diseases","volume":"3 3","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140354422","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
下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信