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Material Type: Artigo
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Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily livingRandall, Jason A ; Sutter, Carolyn ; Wang, Stella ; Bailey, Evan ; Raither, Lydia ; Perfetti, Riccardo ; Shendelman, Shoshana ; Burbridge, ClaireOrphanet journal of rare diseases, 2022-03, Vol.17 (1), p.138-138, Article 138 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Validation of the 5-domain Niemann-Pick type C Clinical Severity ScalePatterson, Marc C ; Lloyd-Price, Lucy ; Guldberg, Christina ; Doll, Helen ; Burbridge, Claire ; Chladek, Michael ; íDali, Christine ; Mengel, Eugen ; Symonds, TaraOrphanet journal of rare diseases, 2021-02, Vol.16 (1), p.79-79, Article 79 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspectiveMengel, Eugen ; Patterson, Marc C ; Chladek, Michael ; Guldberg, Christina ; Í Dali, Christine ; Symonds, Tara ; Lloyd-Price, Lucy ; Mathieson, Toni ; Crowe, Joslyn ; Burbridge, ClaireOrphanet journal of rare diseases, 2021-11, Vol.16 (1), p.493-493, Article 493 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |