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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133174/
https://www.ncbi.nlm.nih.gov/pubmed/29704188
http://dx.doi.org/10.1007/s10545-018-0186-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133174/
https://www.ncbi.nlm.nih.gov/pubmed/29704188
http://dx.doi.org/10.1007/s10545-018-0186-z

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