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名词信息
中 文 名:
硫酸酯酶缺乏症
英 文 名:
sulfatase deficiency
中文又称:
中文曾称:
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所属专业:
内分泌科
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Pubmed相关的文献
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
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
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
[Multiple sulfatase deficiency].
Eto Y, Ito T, Kobayashi H.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):385-8.
PMID:9645088
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
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
The sulfatase gene family.
Parenti G, Meroni G, Ballabio A.
Curr Opin Genet Dev. 1997 Jun;7(3):386-91. doi: 10.1016/s0959-437x(97)80153-0.
PMID:9229115
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.
PMID:32620537
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