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mucolipidosis相关文献:
Mucolipidosis type IV.
Bach G.
Mol Genet Metab. 2001 Jul;73(3):197-203. doi: 10.1006/mgme.2001.3195.
PMID:11461186
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 II and type III: a systematic review of 843 published cases.
Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E.
Genet Med. 2021 Nov;23(11):2047-2056. doi: 10.1038/s41436-021-01244-4. Epub 2021 Jun 25.
PMID:34172897
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
From mucolipidosis type IV to Ebola: TRPML and two-pore channels at the crossroads of endo-lysosomal trafficking and disease.
Grimm C, Butz E, Chen CC, Wahl-Schott C, Biel M.
Cell Calcium. 2017 Nov;67:148-155. doi: 10.1016/j.ceca.2017.04.003. Epub 2017 Apr 23.
PMID:28457591
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 II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature.
Chapel DB, Choy B, Pytel P, Husain AN, Lastra RR.
Int J Gynecol Pathol. 2019 Jul;38(4):346-352. doi: 10.1097/PGP.0000000000000506.
PMID:29620587
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
[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
Liu N, Feng Y, Jiang M, Kong XD.
Zhonghua Er Ke Za Zhi. 2019 Dec 2;57(12):950-954. doi: 10.3760/cma.j.issn.0578-1310.2019.12.010.
PMID:31795562
Mucolipidosis: A mimicker of juvenile idiopathic arthritis.
Chopra S, Maheshwari A, Verma A, Kannepalli A, Mahto D.
Int J Rheum Dis. 2023 Jul;26(7):1363-1367. doi: 10.1111/1756-185X.14620. Epub 2023 Mar 3.
PMID:36869440
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