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名词信息
中 文 名:
黏脂质贮积病Ⅱ型
英 文 名:
mucolipidosis Ⅱ
中文又称:
中文曾称:
名词来源:
所属专业:
皮肤科
所属类别:
疾病诊断名词
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Pubmed相关的文献
mucolipidosis Ⅱ
相关文献:
Mucolipidosis II.
Kylat RI.
J Pediatr. 2021 Feb;229:302-304. doi: 10.1016/j.jpeds.2020.09.070. Epub 2020 Oct 7.
PMID:33038345
Mucolipidosis type IV.
Bach G.
Mol Genet Metab. 2001 Jul;73(3):197-203. doi: 10.1006/mgme.2001.3195.
PMID:11461186
Mucolipidosis IV.
Cantani A.
Am J Dis Child. 1983 Jan;137(1):88. doi: 10.1001/archpedi.1983.02140270078027.
PMID:6847966
Mucolipidosis I.
Cibis GW, Harris DJ, Chapman AL, Tripathi RC.
Arch Ophthalmol. 1983 Jun;101(6):933-9. doi: 10.1001/archopht.1983.01040010933017.
PMID:6860209
Mucolipidosis type IV: an update.
Wakabayashi K, Gustafson AM, Sidransky E, Goldin E.
Mol Genet Metab. 2011 Nov;104(3):206-13. doi: 10.1016/j.ymgme.2011.06.006. Epub 2011 Jun 16.
PMID:21763169
[Mucolipidosis].
Okada S.
Nihon Rinsho. 1977 Spring;35 Suppl 1:1106-7.
PMID:612748
TRPML1: The Ca
(2+)
retaker of the lysosome.
Di Paola S, Scotto-Rosato A, Medina DL.
Cell Calcium. 2018 Jan;69:112-121. doi: 10.1016/j.ceca.2017.06.006. Epub 2017 Jun 24.
PMID:28689729
Mucolipidosis type IV in a child.
Chaer L, Harissi-Dagher M, Soucy JF, Ellezam B, Hamel P.
J AAPOS. 2018 Dec;22(6):469-471. doi: 10.1016/j.jaapos.2018.04.011. Epub 2018 Aug 16.
PMID:30120981
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.
Terawaki S, Nakanishi H, Shibuya T, Sakai N, Otomo T.
Int J Mol Sci. 2025 Jun 29;26(13):6275. doi: 10.3390/ijms26136275.
PMID:40650054
Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.
Monteagudo-Vilavedra E, Rodrigues D, Vella G, Bravo SB, Pena C, Lopez-Valverde L, Colon C, Sanchez-Pintos P, Otero Espinar FJ, Couce ML, Alvarez JV.
Int J Mol Sci. 2025 Mar 7;26(6):2408. doi: 10.3390/ijms26062408.
PMID:40141052
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