Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing-Reference-Cited by-同舟云学术

Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing

Published:2022-01 Issue: Volume:524 Page:194-200
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Fang Xiaohua,Zhu Chaofeng,Zhu Xiaofan,Feng Yin,Jiao Zhihui,Duan Huikun,Kong Xiangdong,Liu Ning

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference59 articles.

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3. Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms;Kondo;Hum. Mol. Genet.,2017

4. Mucopolysaccharidoses and the eye;Ashworth;Surv. Ophthalmol.,2006

5. Mucopolysaccharidosis type III (sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit /hyperactivity disorder or autism spectrum disorder;Wijburg;Acta Paediatr.,2013

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