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Orphanet Journal of Rare Diseases cover

Orphanet Journal of Rare Diseases

IF3.5
Papers4993
Citations15208
Journal Papers 4976
Publication Date
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The complexity of multiple rare dental anomalies in a single mouth: microcephalic osteodysplastic primordial dwarfism type II
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-28
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deleteIsaac Maximiliano Bugueno; Alexandra Jimenez-Armijo; Magali Hernandez; Argyro Lamprou; Clara Martin; Marzena Kawczynski; Gaétan Caravello; Elise Schaefer; Céline Huber; Naji Kharouf; Marie-Cécile Manière; Valérie Cormier-Daire; Agnès Bloch-Zupan
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Socioeconomic status and resilient coping in rare disease patients: the chain-mediating roles of social support and family resilience
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-25
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deleteShen’ao Wei; Wen’xiong Zhou; Xin’yi Zhu; Xi’xi Liu; Shi’jie Sun; Xiao’hu Wang; Man’man Lu
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3-O-methyldopa profiling in aromatic L-amino-acid decarboxylase deficiency: from diagnosis to follow-up under gene therapy using dried blood spots LC-MS/MS
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-25
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deleteClaudia Ravelli; Dominique Farabos; Ophélie Chaussenery; Inès Fayache; Florence Renaldo; Diane Doummar; Antonin Lamazière; Aurore Desmons
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“How can we help our children if no one’s helping us?”: Parent and clinician priorities for mental health support in children with rare genetic conditions who have intellectual and developmental disabilities – a framework analysis
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-23
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deleteJeanne Wolstencroft; Harriet Housby; Shriya Bhudia; Irene Lee; Isabella Vainieri; Nadja Bednarczuk; Bonamy R. Oliver; Sarah L. Wynn; Sophie D. Bennett
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Clinical characteristics, treatments and outcomes of patients with ornithine transcarbamylase deficiency (OTCD): a retrospective cohort study using a US electronic health record database
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-23
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deleteAnita M. Loughlin; Nicholas Ah Mew; Wei-Chun Hsu; Fan Mu; Qing Liu; Ryan B. Simpson; Abigail Zion; Zoey Kang; Vanja Sikirica
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Multicenter screening of childhood Fabry disease in Shandong Province, China
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-23
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deleteJing Wang; Ruixian Zang; Minle Tian; Jiuli Chang; Zhongying Fu; Qing Sun; Wen Deng; Xuemei Liu; Weiran Zhou; Yanling Wu; Hui Zhang; Benyuan Fang; Xiaoteng Yu; Liping Chen; Fengyan Sun; Jingcai Wang; Cuicui Guo; Yulong Wang; Luan Zhang; Yousheng Wang; Ling Lu; Huanqin Cui; Qiqi Wei; Yujuan Wang; Qinghua Li; Yilin Wang; Jie Zhao; Peifeng Duan; Hong Chang; Changjian Ma; Xu Lin; Qiang Ma; Yanji Zhu; Yandong Wang; Li Xu; Lei Xia; Longfeng Chen; Hua Guo; Qian Li; Shuzhen Sun
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Genotypic spectrum and genotype-phenotype correlation in multi-ethnic neonates with hyperphenylalaninemia from Xinjiang, China
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-21
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deleteShuyuan Xue; Jiaojie Yao; Mengdi Wang; Qiqi Zou; Ting Hao; Guifeng Ding; Huijuan Wang
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Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-21
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deleteMinjun Zhao; Fuwei Li; Xiangpeng Lu; Hong Zheng; Xilong Du
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Cortical gyrification abnormalities are coupled with white matter microstructural disruption in dentatorubral-pallidoluysian atrophy
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-19
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deleteMeng-Cheng Li; Jia-Yi Chen; Xin-Yuan Chen; Ru-Ying Yuan; Zi-Qiang Huang; Jia-Qi Weng; Qiao-Zhen Zheng; Shi-Rui Gan; Jian-Ping Hu
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Clinical features and management of a series of duodenal duplication cysts in children
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-19
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deleteWenbo Pang; Yajun Chen; Kai Wang; Jiayu Yan; Dan Zhang; Xiumin Qin
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Expert Delphi consensus on the diagnosis and management of Hypophosphatasia in the Gulf Cooperation Council region
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-18
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deleteMajid Alfadhel; M. Zulf Mughal; Fatma Al-Jasmi; Afaf Alsagheir; Mohamed Al Mohaya; Asma Deeb; Zahra AlSahlawi; Nasser Rajallah Aljuhani; Aisha Al Senani; Eissa Ali Faqeih; Moeenaldeen Al Sayed
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Clinical outcome assessments in Pompe disease: a pragmatic review of their validity, concept coverage, and value in clinical practice and clinical research
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-18
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deleteIan Keyzor; Elizabeth Exall; Sara Savar; Katie Forster; Katy Gallop; Tan P. Pham
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Adult X-linked hypophosphatemia: multisystem morbidity and no evidence of genotype–phenotype correlation – insights from a Brazilian cohort
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-17
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deleteLuciana Pinto Valadares; Daniel Rocha de Carvalho; Fernanda Sousa Cardoso Lopes; Renata Santarem de Oliveira; Luiz Claudio Gonçalves de Castro
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Characteristics, treatment patterns, and outcomes of patients with transthyretin amyloidosis: a large-scale, observational, retrospective study in China (OverTTuRe China)
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-16
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deleteZhuang Tian; Wei Ma; Lingchao Meng; Daoquan Peng; Yugang Dong; Yili Chen; Jiangtao Yan; Qing Zhang; Lin Liu; Shuai Wang; Meiyan Dai; Di Lu; Shaosen Zhang; Jason Wright; Shuyang Zhang
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CREB3L3 associated severe hypertriglyceridemia: targeted NGS identification of a novel truncating variant and systematic review
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-15
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deleteQuratul Ain; Madeeha Khan; Natalia Azhar; Jaka Sikonja; Muhammad Asim Rana; Saeed Shafi; Barbara Cugalj Kern; Muhammad Iqbal Khan; Muhammad Ajmal; Fouzia Sadiq; Urh Groselj
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Fabry Disease Screening and Registry Framework (FDSRF) in Saudi Arabia: Rationale, Design and Implementation
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-15
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deleteAliah Abuammah; Mohammed Fouda; Mostafa Al Shamiri; Fayez Elshaer; Mosaad Alhussein; Khalid Naji; Mamoun Elawad; Sarar Mohamed; Ke Wan; Biao Dong; Hussein Alamri
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Genotype-informed clinical subtyping and treatment landscape of CSNK2B-related Poirier-Bienvenu neurodevelopmental syndrome
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-15
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deleteChunhui Hu; Shan Lin; Shuzhen Luo; Foyang Fan; Liping Zhang; Deying Liu
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Real-world clinical use of large neutral amino acids in phenylketonuria: a nationwide survey from Turkey under reimbursement constraints
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-12
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deleteEngin Köse; Tanyel Zübarioğlu; Aynur Küçükcongar Yavaş; Özlem Ünal; Fatih Kardaş
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Analysis of first-dose fludrocortisone accessibility in patients with salt-wasting congenital adrenal hyperplasia in mainland china: a single-center retrospective study
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-12
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deleteQiu-yan Luo; Zhi-ying Zeng; Sheng-ping Yang; Shi-xue Dai; Jun-feng Zeng
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From questions to impact in spinal muscular atrophy - identifying community-driven research priorities through a multi-stakeholder European initiative
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-09-10
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deleteNicole Gusset; Vanessa Christie-Brown; Claudio Bruno; Peter Claus; Emilia Debska; Federica Fontana; Olga Germanenko; Thomas H. Gillingwater; Katy Harrison; Robert Muni Lofra; Marianne Nordstrom; Kristina Staley; Véronique van Assche; Yasemin Erbas
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