Mucolipidosis type III, a series of adult patients

BACKGROUND: Mucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. Publications on the natural history of MLIII,...

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Bibliographic Details
Published in:J Inherit Metab Dis
Main Authors: Oussoren, Esmee, van Eerd, David, Murphy, Elaine, Lachmann, Robin, van der Meijden, Jan C., Hoefsloot, Lies H., Verdijk, Rob, Ruijter, George J. G., Maas, Mario, Hollak, Carla E. M., Langendonk, Janneke G., van der Ploeg, Ans T., Langeveld, Mirjam
Format: Artigo
Language:Inglês
Published: Springer Netherlands 2018
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Original Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6133174/
https://ncbi.nlm.nih.gov/pubmed/29704188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-018-0186-z
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