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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
Sialidoses.
Franceschetti S, Canafoglia L.
Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845.
PMID:27621198
Mucolipidosis type IV.
Bach G.
Mol Genet Metab. 2001 Jul;73(3):197-203. doi: 10.1006/mgme.2001.3195.
PMID:11461186
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
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
Unusual feature of neonatal hypernatremic dehydration due to microvillus inclusion disease: a case report.
Khalsi F, Boukhris MR, Brini I, Hugot JP, Berrebi PD, Boussetta K.
Pan Afr Med J. 2018 Jun 11;30:109. doi: 10.11604/pamj.2018.30.109.12330. eCollection 2018.
PMID:30364420
Mucolipidosis I--a sialidosis.
Sphranger J, Gehler J, Cantz M.
Am J Med Genet. 1977;1(1):21-9. doi: 10.1002/ajmg.1320010104.
PMID:610423
AAV-mediated gene therapy for sialidosis.
van de Vlekkert D, Hu H, Weesner JA, Fremuth LE, Brown SA, Lu M, Gomero E, Campos Y, Sheppard H, d'Azzo A.
Mol Ther. 2024 Jul 3;32(7):2094-2112. doi: 10.1016/j.ymthe.2024.05.029. Epub 2024 May 25.
PMID:38796704
Mucolipidosis IV.
Cantani A.
Am J Dis Child. 1983 Jan;137(1):88. doi: 10.1001/archpedi.1983.02140270078027.
PMID:6847966
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
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