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

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

Abstract 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. Recent...

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Bibliographic Details
Main Authors: Jinliang Li, Han Xie, Yuwu Jiang
Format: Article
Language:English
Published: BMC 2018-04-01
Series:BMC Medical Genetics
Subjects:
Mucopolysaccharidosis IIIB
NAGLU
CYP26B1
Novel pathogenic variation
Lysosomal storage diseases
Online Access:http://link.springer.com/article/10.1186/s12881-018-0562-4

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http://link.springer.com/article/10.1186/s12881-018-0562-4

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