Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

Clin Genet. 2024 Jun 11. DOI: 10.1111/cge.14573 Online ahead of print.

Siying Lin  , Anthony G Robson  , Dorothy A Thompson  , Karolina M Stepien , Robin Lachmann , Emma Footitt , Ola Czyz , Shwetha Chandrasekhar , Elena Schiff  , Christos Iosifidis , Graeme C Black , Michel Michaelides  , Omar A Mahroo   , Gavin Arno   , Andrew R Webster  

https://pubmed.ncbi.nlm.nih.gov/38863195/

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment

Mol Genet Metab. 2024 Feb 20;142(1):108349. DOI: 10.1016/j.ymgme.2024.108349 Online ahead of print.

Teresa H Y Wu, Heather A Brown, Heather J Church, Christopher J Kershaw, Rebekah Hutton, Christine Egerton, James Cooper, Karen Tylee, Rebecca N Cohen, David Gokhale, Dipak Ram, Georgina Morton, Michael Henderson, Brian W Bigger, Simon A Jones

https://pubmed.ncbi.nlm.nih.gov/38458124