Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
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

  1. Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Hearing Status in Survivors of Childhood Acute Myeloid Leukemia Treated With Chemotherapy Only: A NOPHO-AML Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. l-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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