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Orphanet Journal of Rare Diseases|June 9, 2025
Transplacental sirolimus: a new treatment strategy for life-threatening fetal cardiac rhabdomyomas-a case reportKaname Uno, Yoji Nomura, Masahiro Kawaguchi, et al.
Orphanet Journal of Rare Diseases|June 11, 2025
Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 genePing Wang, Hanbing Xie, Xiao Xiao, et al.
Orphanet Journal of Rare Diseases|June 10, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosisAurélien Palmyre, Fairouz Koraichi, Flavie Ader, et al.
Orphanet Journal of Rare Diseases|March 29, 2025
Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome SurveysShoshana Revel-Vilk, Uma Ramaswami, Guillem Pintos-Morell, et al.
Orphanet Journal of Rare Diseases|March 29, 2025
Spanish consensus on managing pregnancy in women with Gaucher diseaseEnrique J Calderón, Alicia Rodríguez-Fernández, Irene Calderón-Baturone, et al.
Orphanet Journal of Rare Diseases|April 9, 2025
'We are the engine': a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disabilityMirthe Jasmijn Klein Haneveld, Chloé Aymée de Mortier, Anne Hugon, et al.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC geneYinChun Zhang, Xia Gu, Congcong Shi, et al.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
Orphanet Journal of Rare Diseases|March 19, 2025
Development of the natural history component of an early economic model for primary sclerosing cholangitisChristopher Bowlus, Cynthia Levy, Kris V Kowdley, et al.
Orphanet Journal of Rare Diseases|March 20, 2025
Texture analysis of cardiovascular MRI native T1 mapping in patients with Duchenne muscular dystrophyMary Luz Mojica-Pisciotti, Tomáš Holeček, Věra Feitová, et al.
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