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Akademický článek

The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series

Autor: A. Cattoni, S. Motta, N. Masera, S. Gasperini, A. Rovelli, R. Parini

Publikováno v: Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-10 (2019)

Abstract Background The treatment with recombinant human growth hormone in patients affected by Mucopolysaccharidoses (MPS) is considered whenever a concurrent diagnosis of growth hormone deficiency is demonstrated. The short- and long-term effects o

Externí odkaz: https://doaj.org/article/289ff43a53ba44019b18e5c329faabc4

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Akademický článek

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 85-91 (2017)

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introducti

Externí odkaz: https://doaj.org/article/ad9de0bfdba240b8916fa4e6bc3cc83d

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Akademický článek

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

Autor: D. Hughes, R. Giugliani, N. Guffon, S. A. Jones, K. E. Mengel, R. Parini, R. Matousek, S. M. Hawley, A. Quartel

Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)

Abstract Background This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 years of age evalu

Externí odkaz: https://doaj.org/article/4721627440df49499df6211cfe57b3d1

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