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MPs mucopolysaccharidosis type Ⅱ相关文献:
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L, Behluli E, Peterlin B, Nefic H, Hadziselimovic R, Liehr T, Temaj G.
Pediatr Endocrinol Diabetes Metab. 2021;27(3):201-208. doi: 10.5114/pedm.2021.109270.
PMID:34743503
[Mucopolysaccharidosis: clinical features, diagnosis and management].
Suarez-Guerrero JL, Gómez Higuera PJ, Arias Flórez JS, Contreras-García GA.
Rev Chil Pediatr. 2016 Jul-Aug;87(4):295-304. doi: 10.1016/j.rchipe.2015.10.004. Epub 2015 Nov 21.
PMID:26613630
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
Yi M, Wang Y, Gao X, Han L, Qiu W, Gu X, Maegawa GHB, Zhang H.
J Inherit Metab Dis. 2022 May;45(3):593-604. doi: 10.1002/jimd.12491. Epub 2022 Mar 7.
PMID:35212421
Elosulfase alfa.
Haddley K.
Drugs Today (Barc). 2014 Jul;50(7):475-83. doi: 10.1358/dot.2014.50.7.2177904.
PMID:25101330
Misdiagnosis in mucopolysaccharidoses.
Wiśniewska K, Wolski J, Gaffke L, Cyske Z, Pierzynowska K, Węgrzyn G.
J Appl Genet. 2022 Sep;63(3):475-495. doi: 10.1007/s13353-022-00703-1. Epub 2022 May 13.
PMID:35562626
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?
Grant CL, López-Valdez J, Marsden D, Ezgü F.
Mol Genet Metab. 2024 Mar;141(3):108145. doi: 10.1016/j.ymgme.2024.108145. Epub 2024 Jan 17.
PMID:38301529
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Pollard LM, Jones JR, Wood TC.
J Inherit Metab Dis. 2013 Mar;36(2):179-87. doi: 10.1007/s10545-012-9533-7. Epub 2012 Sep 14.
PMID:22976768
Glycosaminoglycans and mucopolysaccharidosis type III.
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G.
Front Biosci (Landmark Ed). 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463.
PMID:27100513
Fluoxetine ameliorates mucopolysaccharidosis type IIIA.
Capuozzo A, Montefusco S, Cacace V, Sofia M, Esposito A, Napolitano G, Nusco E, Polishchuk E, Pizzo MT, De Risi M, De Leonibus E, Sorrentino NC, Medina DL.
Mol Ther. 2022 Apr 6;30(4):1432-1450. doi: 10.1016/j.ymthe.2022.01.037. Epub 2022 Feb 2.
PMID:35121108
Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?
Cyske Z, Gaffke L, Pierzynowska K, Węgrzyn G.
Int J Mol Sci. 2024 Sep 4;25(17):9570. doi: 10.3390/ijms25179570.
PMID:39273517
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