Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency

BACKGROUND: Multiple sulfatase deficiency (MSD) (MIM#272200) is an ultra‐rare autosomal recessive lysosomal storage disorder caused by mutation of the Sulfatase Modifying Factor 1 (SUMF1) gene. METHODS: Herein, we report an eight‐year‐old boy with a late infantile form of multiple sulfatase deficien...

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Detalles Bibliográficos
Autores principales: Zhang, Jingjing, Ma, Dingyuan, Liu, Gang, Zeng, Huasha, Wang, Yuguo, Luo, Chunyu, Hu, Ping, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756991/
https://www.ncbi.nlm.nih.gov/pubmed/36441600
http://dx.doi.org/10.1002/jcla.24786

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756991/
https://www.ncbi.nlm.nih.gov/pubmed/36441600
http://dx.doi.org/10.1002/jcla.24786

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