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Orphanet Journal of Rare Diseases|October 23, 2026
Navigating adulthood with maple syrup urine disease: patient and caregiver perspectives on healthcare transition and independent livingJessica I Gold, Megan Grabill, Karen Dolins, et al.Orphanet Journal of Rare Diseases|October 23, 2026
Respiratory microbiome dysbiosis in STAT3 hyper-IgE syndrome (Job syndrome)Cristian Roca, Matthew A Greenwald, Bryan T Zorn, et al.Orphanet Journal of Rare Diseases|October 28, 2026
Longitudinal outcomes of non-transplanted ornithine transcarbamylase deficiency in males and females: a multicentre UK natural history cohortBerna Seker-Yilmaz, Julien Baruteau, Raphael Buttigieg, et al.Orphanet Journal of Rare Diseases|October 31, 2026
Consistent unmet needs and fragmented care in Rett syndrome: insights from a multi-country European caregiver studyTom Pulles, Becky Jenner, Mariëlle van den Berg, et al.Orphanet Journal of Rare Diseases|June 13, 2022
An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1Fabiana Mallone, Luca Lucchino, Sandra Giustini, et al.Orphanet Journal of Rare Diseases|December 3, 2010
The diagnosis of inherited metabolic diseases by microarray gene expression profilingMonica Arenas Hernandez, Reiner Schulz, Tracy Chaplin, et al.Orphanet Journal of Rare Diseases|August 24, 2010
Interstitial lung diseases in childrenAnnick Clement, Nadia Nathan, Ralph Epaud, et al.Orphanet Journal of Rare Diseases|June 1, 2010
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief reviewLouise L C Pinto, Taiane A Vieira, Roberto Giugliani, et al.Pageof 477