Below are the most recent publications written about "Mucolipidoses" by people in Profiles.
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Khan SA, Tomatsu SC. Mucolipidoses Overview: Past, Present, and Future. Int J Mol Sci. 2020 Sep 17; 21(18).
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Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020 05; 40(6):738-745.
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Leti Acciaro A, Pilla F, Faldini C, Adani R. The carpal tunnel syndrome in children. Musculoskelet Surg. 2018 Dec; 102(3):261-265.
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Kubaski F, Suzuki Y, Orii K, Giugliani R, Church HJ, Mason RW, Dung VC, Ngoc CT, Yamaguchi S, Kobayashi H, Girisha KM, Fukao T, Orii T, Tomatsu S. Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. Mol Genet Metab. 2017 03; 120(3):247-254.
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Yang J, Yan Y, Xia Y, Kang T, Li X, Ciric B, Xu H, Rostami A, Zhang GX. Neurotrophin 3 transduction augments remyelinating and immunomodulatory capacity of neural stem cells. Mol Ther. 2014 Feb; 22(2):440-450.
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Tomatsu S, Monta?o AM, Oguma T, Dung VC, Oikawa H, Guti?rrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Barrera LA, Kida K, Kubota M, Orii T. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol Genet Metab. 2010 Feb; 99(2):124-31.
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Wilcox WR, Wenger DA, Lachman RS, Rimoin DL. Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. Am J Med Genet A. 2005 Jun 15; 135(3):333.
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Tomatsu S, Gutierrez MA, Ishimaru T, Pe?a OM, Monta?o AM, Maeda H, Velez-Castrillon S, Nishioka T, Fachel AA, Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer LS, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Noguchi A. Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005; 28(5):743-57.
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Tomatsu S, Okamura K, Maeda H, Taketani T, Castrillon SV, Gutierrez MA, Nishioka T, Fachel AA, Orii KO, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer LS, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Haskins M, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Okuyama T, Tanaka A, Noguchi A. Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005; 28(2):187-202.
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Unger S, Paul DA, Nino MC, McKay CP, Miller S, Sochett E, Braverman N, Clarke JT, Cole DE, Superti-Furga A. Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr. 2005 Apr; 164(4):236-43.