Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family

BACKGROUND: Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxy glucohydrolase (α-N-acetylglucosaminidase or NAGLU) activity. Recently, an a...

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Detalles Bibliográficos
Autores principales: Li, Jinliang, Xie, Han, Jiang, Yuwu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880076/
https://www.ncbi.nlm.nih.gov/pubmed/29606097
http://dx.doi.org/10.1186/s12881-018-0562-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880076/
https://www.ncbi.nlm.nih.gov/pubmed/29606097
http://dx.doi.org/10.1186/s12881-018-0562-4

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