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Items: 3

1.
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies
Alessandro Fraldi, Alessandra Biffi, Alessia Lombardi, Ilaria Visigalli, Stefano Pepe, Carmine Settembre, Edoardo Nusco, Alberto Auricchio, Luigi Naldini, Andrea Ballabio, Maria Pia Cosma
Biochem J. 2007 Apr 15; 403(Pt 2): 305–312. Prepublished online 2007 Jan 8. Published online 2007 Mar 26. doi: 10.1042/BJ20061783
PMCID:
PMC1874239
AbstractArticlePDF–483K
2.
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders
Pernille A. Gregersen, Victoria McKay, Maie Walsh, Erica Brown, George McGillivray, Ravi Savarirayan
Mol Genet Genomic Med. 2020 Jun; 8(6): e1173. Published online 2020 Apr 18. doi: 10.1002/mgg3.1173
PMCID:
PMC7284023
AbstractArticlePDF–469K
3.
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
L J Sheffield, A H Osborn, W M Hutchison, D O Sillence, S M Forrest, S J White, H H Dahl
J Med Genet. 1998 Dec; 35(12): 1004–1008. doi: 10.1136/jmg.35.12.1004
PMCID:
PMC1051512
SummaryPage BrowsePDF–901K

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