Journal of Rare Diseases最新文献

Diagnosing Harboyan syndrome in a patient with multiple variants of uncertain significance (VUS) 多不确定意义变异体（VUS）对哈伯延综合征的诊断

Journal of Rare Diseases Pub Date : 2025-07-16 DOI: 10.1007/s44162-025-00102-0

Sloane Clay, Adele K. Evans, Regina M. Zambrano, Lucien Courtois, Lena Al-Dujaili, Belinda Mantle, Fern Tsien

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引用次数: 0

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

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

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

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

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

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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

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

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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

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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

引用次数: 0