7 Result(s)

Article

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

This phase III, double-blind, randomised, placebo-controlled trial (and extension phase) was designed to assess the efficacy and safety of velmanase alfa (VA) in alpha-mannosidosis (AM) patients.

Line Borgwardt, Nathalie Guffon, Yasmina Amraoui… in Journal of Inherited Metabolic Disease (2018)

Article

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase alfa in the treatment of alpha-mannosidosis (AM).

Allan M. Lund, Line Borgwardt, Federica Cattaneo… in Journal of Inherited Metabolic Disease (2018)

Article

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individua...

Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston… in Orphanet Journal of Rare Diseases (2018)

Article

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Angeles Garcia Cazorla… in Journal of Inherited Metabolic Disease (2015)

Article

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos… in Journal of Inherited Metabolic Disease (2015)

Article

A multicenter study on Leigh syndrome: disease course and predictors of survival

Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most com...

Kalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni… in Orphanet Journal of Rare Diseases (2014)

Article

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglyc...

Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck… in Orphanet Journal of Rare Diseases (2011)