首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
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
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J.
EMBO Mol Med. 2023 Mar 8;15(3):e14837. doi: 10.15252/emmm.202114837. Epub 2023 Feb 15.
PMID:36789546
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
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Nur BG, Mıhçı E, Pepe S, Biberoğlu G, Ezgü FS, Ballabio A, Öztekin O, Dursun O.
Turk J Pediatr. 2014 Jul-Aug;56(4):418-22.
PMID:25818962
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
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
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
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
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
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3