Profile of eliglustat tartrate in the management of Gaucher disease

Autor: Sechi A, Dardis A, Bembi B

Publikováno v: Therapeutics and Clinical Risk Management, Vol 2016, Iss Issue 1, Pp 53-58 (2016)

Annalisa Sechi, Andrea Dardis, Bruno Bembi Regional Coordinator Center for Rare Diseases, Academic Hospital of Udine, Udine, Italy Abstract: Gaucher disease (GD) is a lysosomal storage disorder caused by the deficient activity of acid beta glucosidas

Externí odkaz: https://doaj.org/article/2cbb4b9755b14721ae7e916a1182d6e4

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Autor: Bolton SC, Soran V, Pineda M, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T

Publikováno v: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Background: Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of the natural

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7eb1a8298491fb6144f97be8eae08d41
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20833

Consensus clinical management guidelines for Niemann-Pick disease type C

Autor: Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Pineda M, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M, International Niemann-Pick Disease Registry (INPDR)

Publikováno v: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the acc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::af6c4c9e5c3b84247a371aa60526bfd2
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14117

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