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Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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Vis graf over relationer
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.
OriginalsprogEngelsk
TidsskriftJournal of Inherited Metabolic Disease
Vol/bind36
Udgave nummer6
Sider (fra-til)1015-24
Antal sider10
ISSN0141-8955
DOI
StatusUdgivet - nov. 2013

ID: 42940327