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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
Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.
Feng Y, Huang Y, Zhao X, Sheng H, Su X, Yin X, Li L, Zhang W.
BMC Pediatr. 2024 Dec 23;24(1):830. doi: 10.1186/s12887-024-05223-x.
PMID:39710647
[Mucolipidosis].
Okada S.
Nihon Rinsho. 1977 Spring;35 Suppl 1:1106-7.
PMID:612748
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
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
Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.
Misko AL, Weinstock LD, Sankar SB, Furness A, Grishchuk Y, Wood LB.
Cells. 2022 Feb 4;11(3):546. doi: 10.3390/cells11030546.
PMID:35159355
Mucolipidosis IV.
Goutières F, Arsenio-Nunes ML, Aicardi J.
Neuropadiatrie. 1979 Nov;10(4):321-31. doi: 10.1055/s-0028-1085335.
PMID:231746
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