Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review
Article in BMC Pediatrics (March 2023)
The most recent citing publications are shown below. View all 13 publications that cite this research output on Dimensions.
Fallvorstellung einer weltweit seltenen homozygoten Splicemutation in SUMF1
Conference proceeding in Geburtshilfe und Frauenheilkunde (May 2022)
Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD
Article in ERJ Open Research (April 2022)