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BRENDA support

Literature summary for 3.2.1.24 extracted from

  • Borgwardt, L.; Dali, C.I.; Fogh, J.; Mansson, J.E.; Olsen, K.J.; Beck, H.C.; Nielsen, K.G.; Nielsen, L.H.; Olsen, S.O.; Riise Stensland, H.M.; Nilssen, O.; Wibrand, F.; Thuesen, A.M.; Pearl, T.; Haugsted, U.; Saftig, P.; Blanz, J.; Jones, S.A.; Tylki-Szymanska, A.; Guffon-Fouiloux, N.; Beck, M.; Lund, A.M.
    Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study (2013), J. Inherit. Metab. Dis., 36, 1015-1024.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Synonyms

Synonyms Comment Organism
Laman recombinant enzyme Homo sapiens

General Information

General Information Comment Organism
malfunction alpha-mannosidase deficiency causes the rare lysosomal storage disease alpha-mannosidosis leading to intellectual disabilities, facial characteristics and hearing impairment Homo sapiens