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Orphanet Journal of Rare Diseases cover

Orphanet Journal of Rare Diseases

IF3.5
Papers5050
Citations17989
Journal Papers 5050
Publication Date
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Ketogenic diet improves renal Fanconi syndrome in nephropathic cystinosis: first human proof-of-principle from an n-of-1 pediatric study
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-13
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deleteElena Levtchenko; Arend Bokenkamp; Maud M. van Muilekom; Annet Bosch; Fanny Oliveira Arcolino; Saskia van der Lee-van Diest; Annelieke Muller; Josephina Koppes; Clara van Karnebeek; Francesco Emma; Francesco Bellomo
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Exploring the landscape of clinical research in AATD: a cross-sectional review of registered studies in clinicaltrials.gov, clinicaltrialsregister.eu, and WHO ICTRP
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-12
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deletePhilipp Höger; Markus Ries; Arturo Olivares Rivera; Katharina Buschulte; Konstantina Kontogianni; Hilal Ersöz; Ralf Eberhardt; Sebastian Fähndrich; Sabina Janciauskiene; Felix Herth; Franziska C Trudzinski
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Evaluation of patients affected by inherited metabolic disorders (IMDs) in adult centres: a snapshot from the first multi-centre Italian survey from the Italian society for the study of hereditary metabolic diseases and newborn screening (SIMMESN) adult metabolic working group
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-12
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deleteDavide Noto; Maria Letizia Urban; Antonio Barbato; Andrea Benso; Lucia Brodosi; Alessandro P. Burlina; Francesca Carubbi; Annalia Cianflone; Giuliana Da Prato; Massimiliano Filosto; Michelangelo Mancuso; Paola Mandich; Giacomo Marchi; Mariarosa Anna Beatrice Marina Melone; Irene Motta; Olimpia Musumeci; Claudia Sgattoni; Elena Verrecchia; Nicola Vitturi; Annalisa Sechi
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Deep phenotyping in medical genetics and genomics: a comprehensive overview
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-12
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deleteGuozhuang Li; Jihao Cai; Zefu Chen; Kexin Xu; Qing Li; Lina Zhao; Qingwei Qi; Zhihong Wu; Terry Jianguo Zhang; Sen Zhao; Nan Wu
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Bezafibrate partially rescues mitochondrial dysfunction in NDUFAF2-deficient cellular and rotenone-induced models of complex I impairment
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-11
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deleteDayan Wang; Panjian Lai; Kaichao Cheng; Pengfei Yu; Xueyan Jiang; Tuchenchen Shen; Wenji Lou; Xiaobing Li
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Qualitative insights from partners of individuals with Huntington’s disease: the quality of life of an under-researched population
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-10
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deleteIsobel Spray; Jeanette Thorpe; Ellie Johnstone; Wiebke Hannemann; Ferdinando Squitieri; Giulia Giancaterino; Paola Emilia Mina; Barbara D’Alessio; Astri Arnesen; Jiri Klempir; Olga Ulmanová; Pearl van Lonkhuizen; Anne-Wil Heemskerk; Jennifer Hoblyn; Emer O’Malley; Ramona Moldovan; Georg Bernhard Landwehrmeyer; Stephen Patrick McKenna; Alzbeta Muehlbaeck
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Addressing data fragmentation and drug development barriers in primary mitochondrial diseases: the C-Path Primary Mitochondrial Diseases (PMD) Task Force approach to data harmonization, integration, and endpoint development
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-10
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deleteAlexandre Betourne; Roopal Bhatnagar; Elizabeth Reynolds; Ramona Walls; Volkmar Weissig; Dima Martini-Drew; Sophia Zilber
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Functional characterization of novel compound heterozygous SLC12A3 mutations in a patient with Gitelman syndrome
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-10
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deleteZhongren Shen; Xiaoqun Liu; Zongrui Shen; Zhongzhi Gan; Xiao Bian; Jiang-ting Xu; Bo Yi; Zhaowei Wang; Fu Xiong; Qi Liu
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Glycerol phenylbutyrate as an effective chemical chaperone for traffic-defective ABCB4 variants: comparative analysis with 4-phenylbutyrate
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-10
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deleteManon Banet; Yosra Riahi; Emmanuel Gonzales; Emmanuel Jacquemin; Martine Lapalus; Thomas Falguières
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Blood biomarkers associated with hamartomatous lesions in tuberous sclerosis complex: a scoping review
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-09
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deleteLaura Panti; Elisabeth Nguyen; Charlotte Robitaille; Rose-Marie Drouin-Engler; Renaud Balthazard; Philippe Major; Andrew A. House; Catherine Larochelle; Mark R. Keezer
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A deep intronic splicing mutation in LAMB3 causes systemic inflammation in severe junctional epidermolysis bullosa amenable to targeted therapy
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-11-09
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deleteYue Li; Xiaohan Xiang; Yunxuan Zhang; Jingyi Wang; Zelin Ou; Linxi Zeng; Xiaoyan Luo; Hua Wang
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X-linked chondrodysplasia punctata 1 (CDPX1) due to ARSL pathogenic variants and Xp22.33 contiguous gene deletions: a narrative review of genetics, clinical phenotype, neurodevelopmental features, diagnosis, and multidisciplinary management
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-10-29
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deleteTayyaba Niaz Awan
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Differentiating sulfite intoxication and mitochondrial-related encephalopathy in neonates: a review
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-10-29
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deleteAndrea Gropman; Gregory M. Enns; Jerry Vockley
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Overcoming the challenges of rare disease clinical research
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-10-29
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deleteSean Tunis; Jaime Caro; Pranav Abraham; Kenneth I. Berger; Collin Hovinga; Edward Neilan; Francesc Palau; Alaa Hamed
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Rapamycin rescues neuronal hyperexcitability and seizures driven by megalencephaly-causing AKT3 activation
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-10-27
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deleteYosuke Miyamoto; Takuma Mori; Mitsuru Ishikawa; Eisuke Ichise; Yasuyo Suzuki; Yuko Furukawa; Amane Matsuura; Satoshi Yamashita; Takenori Tozawa; Tatsuji Hasegawa; Masafumi Morimoto; Tomoko Iehara; Hideyuki Okano; Shin Hayashi; Tomohiro Chiyonobu
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Utility of exome-based gene panel testing and research analysis of existing exome sequencing data in suspected monogenic diabetes
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-10-26
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deleteMatheus Vernet Machado Bressan Wilke; Michelle L. Thompson; Sungwoo Jho; Katarzyna Polonis; Hamed Rahi; Alexa Dickson; Meagan M. Corliss; Yang Cao; Jason Walker; Gregory A. Sprenger; Kilannin Krysiak; Molly C. Schroeder; Stephen Stone; Fumihiko Urano; Julie A. Neidich; Kevin M. Bowling
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Targeting taurine metabolism improves mitochondrial function in mt-tRNA mutation-associated mitochondrial disease
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-10-26
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deleteXingyu Zhuang; Ying Zhao; Jianing Wang; Yan Lin; Jiayin Wang; Weiyue Si; Chuanzhu Yan; Busu Li; Kunqian Ji
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Clinical severity and functional burden of pediatric recessive dystrophic epidermolysis bullosa in China: a cross-sectional study
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-10-24
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deleteJunwen Zeng; Qunmei Zhou; Fuying Chen; Zhuo Chen; Junwen Ge; Dong Dong; Ming Li; Xiaoyi Liu; Lijian Shao; Dan Deng
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Too rare to care? A scoping review of clinical management of multicentric carpotarsal osteolysis
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-10-23
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deleteSimeon Rachele; Usai Marina; Angeletti Andrea; Gabba Lara; Bigatti Carolina; Bertamino Marta; Tacchino Chiara; Manni Roberto; Pelosin Elisa; Rosti Giulia; Faravelli Francesca
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Porphyria-associated genetic variation in heme biosynthesis genes: clinical manifestations and associations with clonal hematopoiesis in the UK Biobank
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-10-22
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deleteLili Liu; Yunma Chen; Weinv Zeng; Yi Chen; Ting Wu; Helu Liu; Yifei Chen; Ruibao Ren; Jian Dai; Danli Jiang
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