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Orphanet Journal of Rare Diseases|March 8, 2023
Brazilian registry of patients with porphyria: REBRAPPO studyPaulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, et al.
Orphanet Journal of Rare Diseases|March 7, 2023
Well-being in chronic pediatric inflammatory rheumatic diseases: the experience of a French healthcare networkRita El Haddad, Khalil El Asmar, Chrystelle Hascoët, et al.
Orphanet Journal of Rare Diseases|March 25, 2023
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF©) and determination of a threshold score for moderate symptomsAlan L Shields, Fiona Taylor, Roger E Lamoureux, et al.
Orphanet Journal of Rare Diseases|March 24, 2023
Comprehensive analysis of autophagy-related gene expression profiles identified five gene biomarkers associated with immune infiltration and advanced plaques in carotid atherosclerosisChi Ma, Taoyuan Lu, Yanyan He, et al.
Orphanet Journal of Rare Diseases|July 31, 2016
Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathySaskia Maria Gehrig, Violeta Mihaylova, Sebastian Frese, et al.
Orphanet Journal of Rare Diseases|August 2, 2016
Common disease signatures from gene expression analysis in Huntington's disease human blood and brainEleni Mina, Willeke van Roon-Mom, Kristina Hettne, et al.
Orphanet Journal of Rare Diseases|August 4, 2016
Primary immunodeficiency associated with chromosomal aberration - an ESID surveyEllen Schatorjé, Michiel van der Flier, Mikko Seppänen, et al.
Orphanet Journal of Rare Diseases|July 1, 2015
Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosisYael Shinar, Tali Tohami, Avi Livneh, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptomsSandra Sirrs, Clara D M van Karnebeek, Xiaoxue Peng, et al.
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