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Orphanet Journal of Rare Diseases|May 7, 2022
Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patientsGalliano Zanello, Chun-Hung Chan, David A Pearce, et al.
Orphanet Journal of Rare Diseases|May 7, 2022
Beyond the clinical context: the process of losing oneself living with Huntington's diseaseLuz-Estella Varela, María-Mercedes Arias, María-Antonia Martorell-Poveda, et al.
Orphanet Journal of Rare Diseases|January 24, 2018
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from ChinaZhili Jin, Yini Wang, Jingshi Wang, et al.
Orphanet Journal of Rare Diseases|February 3, 2018
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe diseaseJennifer M Kwon, Dietrich Matern, Joanne Kurtzberg, et al.
Orphanet Journal of Rare Diseases|February 3, 2018
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromesAna Gales, Marion Masingue, Stephanie Millecamps, et al.
Orphanet Journal of Rare Diseases|December 23, 2018
Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinismAlena Welters, Thomas Meissner, Jürgen Grulich-Henn, et al.
Orphanet Journal of Rare Diseases|December 23, 2018
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in malesXiao Zhang, Yanqin Zhang, Yanmei Zhang, et al.
Orphanet Journal of Rare Diseases|June 6, 2022
Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosisWei Zhang, Yanmeng Li, Anjian Xu, et al.
Orphanet Journal of Rare Diseases|May 23, 2022
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, et al.
Orphanet Journal of Rare Diseases|June 22, 2022
Dissociation of early and late face-related processes in autism spectrum disorder and Williams syndromeAlice Gomez, Guillaume Lio, Manuela Costa, et al.
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