Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

BACKGROUND: Multiple sulfatase deficiency (MSD) is a rare lysosomal storage disorder caused due to pathogenic variants in the SUMF1 gene. The SUMF1 gene encodes for formylglycine generating enzyme (FGE) that is involved in the catalytic activation of the family of sulfatases. The affected patients p...

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Detalles Bibliográficos
Autores principales: Sheth, Jayesh, Shah, Siddharth, Datar, Chaitanya, Bhatt, Kaveri, Raval, Pooja, Nair, Aadhira, Jain, Deepika, Shah, Jhanvi, Sheth, Frenny, Sheth, Harsh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037891/
https://www.ncbi.nlm.nih.gov/pubmed/36959582
http://dx.doi.org/10.1186/s12887-023-03955-w

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