Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants

Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activity, consequently impairing the stepwise degradation of glycosaminoglycans (GAGs). Except for MPS II, the other types of MPS have autosomal recessive inheritance...

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Detalles Bibliográficos
Autores principales: Chuang, Chih-Kuang, Tu, Yuan-Rong, Lee, Chung-Lin, Lo, Yun-Ting, Chang, Ya-Hui, Liu, Mei-Ying, Liu, Hsin-Yun, Chen, Hsiao-Jan, Kao, Shu-Min, Wang, Li-Yun, Ho, Huey-Jane, Lin, Hsiang-Yu, Lin, Shuan-Pei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456254/
https://www.ncbi.nlm.nih.gov/pubmed/36077388
http://dx.doi.org/10.3390/ijms23179979

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456254/
https://www.ncbi.nlm.nih.gov/pubmed/36077388
http://dx.doi.org/10.3390/ijms23179979

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