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Orphanet Journal of Rare Diseases|July 29, 2025
Angiogenesis-related genes and immune microenvironment in moyamoya disease: a transcriptomic and functional analysisZhenyu Zhou, Hongchuan Niu, Shaoqi Xu, et al.
Orphanet Journal of Rare Diseases|July 29, 2025
Unmet needs in hereditary angioedema: an international survey of physiciansThomas Buttgereit, Felix Aulenbacher, Adil Adatia, et al.
Orphanet Journal of Rare Diseases|July 27, 2025
Introducing a revised version of the Kumamoto scale as an easy-to-use clinical tool for monitoring multisystemic changes in hereditary transthyretin amyloidosisJonas Wixner, Björn Pilebro, Tale N Wien, et al.
Orphanet Journal of Rare Diseases|July 28, 2025
Lessons learned from a muscle study in nail-patella syndromeLuisa Paul, Anne Schänzer, Christel Depienne, et al.
Orphanet Journal of Rare Diseases|July 27, 2025
Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen databaseMatthew R Scott, Albert Misko, Yang Liu, et al.
Orphanet Journal of Rare Diseases|July 29, 2025
A composite measurement concept for monitoring cardiac function in Fabry diseasePooja Nandi, Robert Ellis, Jennifer Hiros, et al.
Orphanet Journal of Rare Diseases|September 14, 2013
Brachydactyly E: isolated or as a feature of a syndromeArrate Pereda, Intza Garin, Maria Garcia-Barcina, et al.
Orphanet Journal of Rare Diseases|August 3, 2014
Oxidative stress-dependent activation of collagen synthesis is induced in human pulmonary smooth muscle cells by sera from patients with scleroderma-associated pulmonary hypertensionFrancesco Boin, Gian Luca Erre, Anna Maria Posadino, et al.
Orphanet Journal of Rare Diseases|December 5, 2013
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenaseSacha Ferdinandusse, Hans R Waterham, Simon J R Heales, et al.
Orphanet Journal of Rare Diseases|September 7, 2013
Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosaMarilina Tampoia, Domenico Bonamonte, Angela Filoni, et al.
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