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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2018
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Original Article
Acesso em linha: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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