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A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Staretz-Chacham, Orna
;
Schlotawa, Lars
;
Wormser, Ohad
;
Golan-Tripto, Inbal
;
Birk, Ohad S
;
Ferreira, Carlos R
;
Dierks, Thomas
;
Radhakrishnan, Karthikeyan
In: Molecular genetics & genomic medicine, Vol. 8 Issue 9
The human and murine arylsulfatase G - Biological function and deficiency
Kowalewski, Björn
2017