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Orphanet Journal of Rare Diseases|February 3, 2022
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialistsSilvia Kalantari, Brigida Brezzi, Valeria Bracciamà, et al.Orphanet Journal of Rare Diseases|February 15, 2022
Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defectsOla Hammarsten, Anna Lyytikäinen, Sofia Thunström, et al.Orphanet Journal of Rare Diseases|February 15, 2022
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort studyHelge Hebestreit, Cornelia Zeidler, Christopher Schippers, et al.Orphanet Journal of Rare Diseases|February 15, 2022
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, et al.Orphanet Journal of Rare Diseases|February 15, 2022
Development of models of care coordination for rare conditions: a qualitative studyHolly Walton, Amy Simpson, Angus I G Ramsay, et al.Orphanet Journal of Rare Diseases|February 5, 2022
Caregivers' experience of sleep management in Smith-Magenis syndrome: a mixed-methods studyGeorgie Agar, Stacey Bissell, Lucy Wilde, et al.Orphanet Journal of Rare Diseases|February 9, 2022
A cross-sectional study of gender differences in quality of life domains in patients with neurofibromatosis type 1G Hamoy-Jimenez, H A Elahmar, M Mendoza, et al.Orphanet Journal of Rare Diseases|February 9, 2022
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?Derralynn A Hughes, Patrício Aguiar, Olivier Lidove, et al.Orphanet Journal of Rare Diseases|February 11, 2022
Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialistsVanessa L Merker, Pamela Knight, Heather B Radtke, et al.Orphanet Journal of Rare Diseases|February 11, 2022
Integrating rare disease management in public health programs in India: exploring the potential of National Health MissionMohua Chakraborty Choudhury, Pragya ChaubePageof 475