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mucolipidosis Ⅲ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
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
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
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
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
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 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 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
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.
Burgac E, Kaplan İ, Köseci B, Kara E, Kor D, Bulut FD, Atmış A, Pişkin F, Tuğ Bozdoğan S, Urel Demir G, İncecik F, Önenli Mungan N.
Am J Med Genet A. 2024 Jun;194(6):e63545. doi: 10.1002/ajmg.a.63545. Epub 2024 Jan 24.
PMID:38264826
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