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The Capital Region of Denmark - a part of Copenhagen University Hospital
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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 risk of sudden death in untreated Primary Carnitine Deficiency

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  2. Newborn screening for homocystinurias: recent recommendations versus current practice

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

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  2. SPEF2- And HYDIN-mutant cilia lack the central pair-associated protein SPEF2, aiding primary ciliary dyskinesia diagnostics

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  3. Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

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  4. Danish expanded newborn screening is a successful preventive public health programme

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  5. Primary ciliary dyskinesia patients have the same P. aeruginosa clone in sinuses and lungs

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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