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sulfatase deficiency相关文献:
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.
PMID:32414121
[Multiple sulfatase deficiency].
Eto Y, Ito T, Kobayashi H.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):385-8.
PMID:9645088
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.
PMID:2899861
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.
PMID:39169621
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.
PMID:32621519
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Bradshaw KD, Carr BR.
Obstet Gynecol Surv. 1986 Jul;41(7):401-13.
PMID:3531932
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.
PMID:1694540
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.
PMID:887310
Neonatal manifestation of multiple sulfatase deficiency.
Busche A, Hennermann JB, Bürger F, Proquitté H, Dierks T, von Arnim-Baas A, Horn D.
Eur J Pediatr. 2009 Aug;168(8):969-73. doi: 10.1007/s00431-008-0871-2. Epub 2008 Dec 10.
PMID:19066960
Placental sulfatase deficiency.
France JT, Liggins GC.
J Clin Endocrinol Metab. 1969 Jan;29(1):138-41. doi: 10.1210/jcem-29-1-138.
PMID:4236358
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