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mucolipidosis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 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
Mucolipidoses Overview: Past, Present, and Future.
Khan SA, Tomatsu SC.
Int J Mol Sci. 2020 Sep 17;21(18):6812. doi: 10.3390/ijms21186812.
PMID:32957425
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: 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
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
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A, Krogsaeter EK, Jaślan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C.
EMBO Mol Med. 2022 Sep 7;14(9):e15377. doi: 10.15252/emmm.202115377. Epub 2022 Aug 5.
PMID:35929194
[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
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