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Refinado por: Base de dados/Biblioteca: Gale Academic OneFile Select remover Nome da Publicação: Orphanet Journal Of Rare Diseases remover
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1
Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living
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Artigo
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Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living

Randall, Jason A ; Sutter, Carolyn ; Wang, Stella ; Bailey, Evan ; Raither, Lydia ; Perfetti, Riccardo ; Shendelman, Shoshana ; Burbridge, Claire

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.138-138, Article 138 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale
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Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale

Patterson, Marc C ; Lloyd-Price, Lucy ; Guldberg, Christina ; Doll, Helen ; Burbridge, Claire ; Chladek, Michael ; íDali, Christine ; Mengel, Eugen ; Symonds, Tara

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.79-79, Article 79 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
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Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

Mengel, Eugen ; Patterson, Marc C ; Chladek, Michael ; Guldberg, Christina ; Í Dali, Christine ; Symonds, Tara ; Lloyd-Price, Lucy ; Mathieson, Toni ; Crowe, Joslyn ; Burbridge, Claire

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.493-493, Article 493 [Periódico revisado por pares]

England: BioMed Central

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