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Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

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  1. Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

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  2. Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes

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  3. Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature

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  4. Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

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  5. Increased risk of sudden death in untreated Primary Carnitine Deficiency

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Alpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disease (LSD) caused by alpha-mannosidase deficiency. Manifestations include intellectual disabilities, facial characteristics and hearing impairment. A recombinant human alpha-mannosidase (rhLAMAN) has been developed for weekly intravenous enzyme replacement therapy (ERT). We present the preliminary data after 12 months of treatment.
Original languageEnglish
JournalJournal of Inherited Metabolic Disease
Volume36
Issue number6
Pages (from-to)1015-24
Number of pages10
ISSN0141-8955
DOIs
Publication statusPublished - Nov 2013

ID: 42940327