Detalhe da pesquisa
1.
Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency.
Orphanet J Rare Dis
; 19(1): 36, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38303068
2.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Orphanet J Rare Dis
; 17(1): 51, 2022 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35164809
3.
International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.
Orphanet J Rare Dis
; 16(1): 482, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34794481
4.
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective.
Orphanet J Rare Dis
; 16(1): 493, 2021 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34819124
5.
Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases.
Orphanet J Rare Dis
; 13(1): 18, 2018 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29357903