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Journal Abstract Search

121 related items for PubMed ID: 38634625

  • 1. Further characterization of ARSK-related mucopolysaccharidosis type 10.
    Uludağ Alkaya D, Taner HE, Yıldırım T, Akpınar E, Tüysüz B.
    Am J Med Genet A; 2024 Aug; 194(8):e63635. PubMed ID: 38634625
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  • 3. [Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
    Zheng J, Huang Y, Zhao X, Sheng H, Cheng J, Zhou Z, Li X, Mao X, Liu L.
    Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):403-8. PubMed ID: 25190157
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  • 9. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
    Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR.
    Am J Med Genet A; 2015 Mar; 167A(3):461-75. PubMed ID: 25604898
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  • 10. Does it always have to be Perthes' disease? What is epiphyseal dysplasia?
    Hesse B, Kohler G.
    Clin Orthop Relat Res; 2003 Sep; (414):219-27. PubMed ID: 12966296
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  • 11. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
    Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB.
    Am J Med Genet A; 2020 Nov; 182(11):2715-2721. PubMed ID: 32856782
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  • 12. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
    Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M.
    Bone; 2023 Feb; 167():116614. PubMed ID: 36400164
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  • 13. A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.
    Sellick GS, Hoornaert KP, Mortier GR, King C, Dolling CL, Newbury-Ecob RA, Gargan M, Hall CM, Houlston RS, Smithson SF.
    Clin Dysmorphol; 2006 Oct; 15(4):197-202. PubMed ID: 16957471
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  • 14. Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
    Verheyen S, Blatterer J, Speicher MR, Bhavani GS, Boons GJ, Ilse MB, Andrae D, Sproß J, Vaz FM, Kircher SG, Posch-Pertl L, Baumgartner D, Lübke T, Shah H, Al Kaissi A, Girisha KM, Plecko B.
    J Med Genet; 2022 Oct; 59(10):957-964. PubMed ID: 34916232
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  • 16. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
    Bradford TM, Litjens T, Parkinson EJ, Hopwood JJ, Brooks DA.
    Biochemistry; 2002 Apr 16; 41(15):4962-71. PubMed ID: 11939792
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  • 17. Delayed diagnosis of mild mucopolysaccharidosis type IVA.
    Yi M, Shen P, Zhang H.
    BMC Med Genomics; 2024 Jun 03; 17(1):151. PubMed ID: 38831290
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  • 18. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
    Smithson SF, Grier D, Hall CM.
    Clin Dysmorphol; 2009 Jan 03; 18(1):31-35. PubMed ID: 19050402
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  • 19. Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.
    Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA.
    Skeletal Radiol; 2019 Aug 03; 48(8):1201-1207. PubMed ID: 30712120
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