Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC.
Int J Mol Sci. 2020 May 13;21(10):3448. doi: 10.3390/ijms21103448.
[Multiple sulfatase deficiency].
Eto Y, Ito T, Kobayashi H.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):385-8.
Multiple sulfatase deficiency.
Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL.
Neurology. 1988 Aug;38(8):1273-5. doi: 10.1212/wnl.38.8.1273.
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency.
Pham V, Tricoli L, Hong X, Wongkittichote P, Castruccio Castracani C, Guerra A, Schlotawa L, Adang LA, Kuhs A, Cassidy MM, Kane O, Tsai E, Presa M, Lutz C, Rivella SB, Ahrens-Nicklas RC.
Mol Ther. 2024 Nov 6;32(11):3829-3846. doi: 10.1016/j.ymthe.2024.08.015. Epub 2024 Aug 22.
Steroid sulfatase deficiency.
Shapiro LJ, Cousins L, Fluharty AL, Stevens RL, Kihara H.
Pediatr Res. 1977 Aug;11(8):894-7. doi: 10.1203/00006450-197708000-00008.
Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome.
Shapiro LJ.
Adv Hum Genet. 1985;14:331-81, 388-9. doi: 10.1007/978-1-4615-9400-0_5.
A systematic cross-sectional survey of multiple sulfatase deficiency.
Cappuccio G, Alagia M, Brunetti-Pierri N.
Mol Genet Metab. 2020 Aug;130(4):283-288. doi: 10.1016/j.ymgme.2020.06.005. Epub 2020 Jun 17.
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Schlotawa L, Preiskorn J, Ahrens-Nicklas R, Schiller S, Adang LA, Gärtner J, Friede T.
J Inherit Metab Dis. 2020 Nov;43(6):1288-1297. doi: 10.1002/jimd.12282. Epub 2020 Jul 22.
Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies.
Guerra WF, Verity MA, Fluharty AL, Nguyen HT, Philippart M.
J Neuropathol Exp Neurol. 1990 Jul;49(4):406-23. doi: 10.1097/00005072-199007000-00005.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA.
Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31.
