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Orphanet Journal of Rare Diseases cover

Orphanet Journal of Rare Diseases

IF3.5
Papers4913
Citations15208
Journal Papers 4896
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Expanding the cardiac phenotype of homozygous PPA2 variants: insights from a large Finnish family
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IF3.5
delete2026-08-13
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deleteKrista Heliö; Aurelia Ahokas; Sonja Sulkava; Mikko I. Mäyränpää; Katriina Aalto-Setälä; Sini Weckström; Liliya Euro; Juha Koskenvuo; Anu Suomalainen; Tiina Heliö; Tiina Ojala
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Novel heterozygous truncating variant in TUBB associated with thrombocytopaenia and neurological abnormalities
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IF3.5
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deleteIlaria Svezia; Riccardo Zocchi; Michela Piccione; Giulia Ceglie; Giuseppe Palumbo; Matteo Becci; De Vito Rita; Jacopo Sartorelli; Teresa Rizza; Daniela Longo; Camilla Rossi Espagnet; Stefania Petrini; Emanuele Agolini; Antonio Novelli; Enrico Bertini; Francesco Nicita; Antonella Sferra
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Transplantation as disease modifying therapy in the era of gene therapy medicinal products – health policy considerations
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IF3.5
delete2026-08-13
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deleteMargreet Wagenmakers; Anna Lehman; Caroline den Hoed; Laura van Dussen; Mirjam Langeveld; Sandra Sirrs
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Implementing evolving Fabry disease management recommendations in resource-constrained settings: lessons from South Africa
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IF3.5
delete2026-08-12
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deleteHelen Louise Malherbe; Christian J. Hendriksz; Barend Christiaan Vorster
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Development and clinical application of CAPAH: a long-read sequencing approach for accurate second-tier screening of phenylketonuria in newborns
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IF3.5
delete2026-08-12
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deleteShuyuan Xue; Ziyi Feng; Jingying Zhu; Xi Chen; Weibo Huang; Pei Liu; Qi Chen; Guifeng Ding
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Clinical, genetic, neuroimaging, and severity spectrum of peroxisomal disorders in Iran: a multicenter cohort study
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IF3.5
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deleteGolazin Shahbodagh Khan; Narges Mashayekhi; Shiva Bayat; Mehran Beiraghi Toosi; Sareh Hosseinpour; Neda Pak; Danielle Dircks; Zahra Rezaei; Reza Shervin Badv; Gholam Reza Zamani; Mahmoud Mohammadi; Mojtaba Movahednia; Parvaneh Karimzadeh; Reza Maroofian; Michael C. Kruer; Ehsan Ghayoor Karimiani; Masoud Garshasbi; Mahmoud Reza Ashrafi; Morteza Heidari; Ali Reza Tavasoli
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The homozygous long variant of 5-HTT gene in congenital central hypoventilation syndrome is associated with a modified resting CO2 set point
deleteOrphanet Journal of Rare Diseases
IF3.5
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deleteNathalie Couque; Benjamin Dudoignon; Plamen Bokov; Christophe Delclaux
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Systemic metabolic remodeling in mucopolysaccharidosis revealed by untargeted urinary metabolomics
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IF3.5
delete2026-08-11
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deleteLingwen Ying; Juan Li; ChengJuan Luo; Jiayue Hu; JiaXiao She; Manpin Zhang; Fan Yang; Biyun Feng; Xiumin Wang; Guoying Chang
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A study on the quality of life and burden of informal caregivers of children with metachromatic leukodystrophy in Poland
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IF3.5
delete2026-08-11
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deleteDariusz Walkowiak; Tomasz Grybek; Karolina Śledzińska; Anna Lemska; Ninela Irga-Jaworska; Jolanta Wierzba; Maria Mazurkiewicz-Bełdzińska; Jan Domaradzki
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Repetitive transcranial magnetic stimulation normalizes cerebrocerebellar loop functional connectivity in spinocerebellar ataxia type 3
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IF3.5
delete2026-08-10
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deleteYonghua Huang; Liu Feng; Peiling Ou; Lihua Deng; Linfeng Shi; He Liu; Zhiming Zhen; Chen Wei; Huafu Chen; Xingang Wang; Jian Wang; Chen Liu
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Long-term treatment with sirolimus for pediatric vascular anomalies
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IF3.5
delete2026-08-10
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deleteJueun Park; Hyunhee Kwon; Dae Yeon Kim; Seong Chul Kim; Jung-Man Namgoong; Yu Jeong Cho
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RBM8A compound heterozygosity causes a complete TAR phenotype in 3 siblings from two pedigrees: a novel frameshift RBM8A variant, focus on the orthopedic involvement, and review of literature on compound heterozygous patients
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-08-10
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deleteClaudia Santoro; Domenico Roberti; Stefania Picariello; Giuseppe Toro; Anna Savoia; Immacolata Tartaglione; Daniela Melis; Maria Anna Siano; Barbara Pocali; Maddalena Casale; Emanuela Stampone; Saverio Scianguetta; Silverio Perrotta
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The Italian Spina Bifida registry: insights from the first 1,000 patient data
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-08-04
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deleteMarco Salvatore; Adele Rocchetti; Giorgia Buoncuore; Claudia Rendeli; Margherita Capriati; Maria Taverna; Tiziana Redaelli; Alessandra Leo; Raffaella Bruno; Maria Cristina Dieci; Paola Torreri
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Improved detection of low-level GNAQ mosaicism in Sturge-Weber syndrome through affected tissue testing, deep sequencing, and HRM-qPCR
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-08-03
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deleteStephanie Lilja; Sarah Glatter; Magdalena Vass; Birgit Pimpel; Bernhard Rosensteiner; Amina Paquay; Iris Schmidt; Robert Birnbacher; Reginald E. Bittner; Martha Feucht; Wolfgang M. Schmidt
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Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT study
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IF3.5
delete2026-08-03
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deleteSufin Yap; Elena Procopio; Alessandro Rossi; Alberto Burlina; Lucy Dougherty-de Miguel; Elvira Cañedo; Francesca Furlan; Sinziana Stanescu; Thibault Delcroix; Zahir Boutoub; Vincenzo Giordano
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Genotypic and clinical characteristics of long-term surviving adult patients with urea cycle disorders in Japan
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-07-31
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deleteJun Kido; Keishin Sugawara; Naomi Yano; Kimitoshi Nakamura
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Clinical and genetic landscapes of mucopolysaccharidosis type III in 20 Chinese patients
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IF3.5
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deleteXueying Su; Yijing Zhang; Xiaoyuan Zhao; Xi Yin; Wen Zhang; Ye Song
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Correction: Randomized investigation to evaluate phenylalanine fluctuation after overnight fasting in PKU patients treated with prolonged-release versus standard amino acid protein substitute
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-07-31
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deleteAnne Daly; Fatma Ilgaz; Sharon Evans; Catherine Ashmore; Alex Pinto; Anita MacDonald
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Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-07-31
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deleteAgnès Farrugia; Ahmed Bahey; Ahmad Tarawah; Arwa Al Yamani; Carla Abou Selwan; Dania Mohty; Denis Wolfs; Dorica Dan; Hafiz Mosa Ali Malhan; Johan De Graaf; Stefan Živković; Yasser Wali; Youmna Ouraybi; Zakareya Al Kadhem; Nafisa Tawfiq; Lee Davelaar; Noha Mohamed Mahmoud Abdelbaky
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Disease severity and lyso-Gb3 are associated with early echocardiographic markers of cardiac involvement in Fabry disease: a single-center observational study
deleteOrphanet Journal of Rare Diseases
IF3.5
delete2026-07-29
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deleteDeniz Mitil; Zeynel Abidin Sayiner; Gökhan Altunbaş; Merve Binicier İnce; Kayahan Tekinşen; İlkay Doğan
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