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2. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. de Ruijter J; de Ru MH; Wagemans T; Ijlst L; Lund AM; Orchard PJ; Schaefer GB; Wijburg FA; van Vlies N Mol Genet Metab; 2012 Dec; 107(4):705-10. PubMed ID: 23084433 [TBL] [Abstract][Full Text] [Related]
3. Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans. Arunkumar N; Vu DC; Khan S; Kobayashi H; Ngoc Can TB; Oguni T; Watanabe J; Tanaka M; Yamaguchi S; Taketani T; Ago Y; Ohnishi H; Saikia S; Álvarez JV; Tomatsu S Diagnostics (Basel); 2021 Jul; 11(8):. PubMed ID: 34441282 [TBL] [Abstract][Full Text] [Related]
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5. [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 [TBL] [Abstract][Full Text] [Related]
6. Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan. Chuang CK; Lin HY; Wang TJ; Huang YH; Chan MJ; Liao HC; Lo YT; Wang LY; Tu RY; Fang YY; Chen TL; Ho HC; Chiang CC; Lin SP Orphanet J Rare Dis; 2018 May; 13(1):84. PubMed ID: 29801497 [TBL] [Abstract][Full Text] [Related]
7. Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses. Baydakova G; Ilyushkina A; Gaffke L; Pierzynowska K; Bychkov I; Ługowska A; Wegrzyn G; Tylki-Szymanska A; Zakharova E Diagnostics (Basel); 2020 Mar; 10(3):. PubMed ID: 32183018 [TBL] [Abstract][Full Text] [Related]
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11. Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Simonaro CM; Haskins ME; Schuchman EH Lab Invest; 2001 Sep; 81(9):1319-28. PubMed ID: 11555679 [TBL] [Abstract][Full Text] [Related]
12. Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses. Mendelsohn NJ; Wood T; Olson RA; Temme R; Hale S; Zhang H; Read L; White KK JIMD Rep; 2013; 11():125-32. PubMed ID: 23657977 [TBL] [Abstract][Full Text] [Related]
13. MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment. Entchev E; Antonelli S; Mauro V; Cimbolini N; Jantzen I; Roussey A; Germain JM; Zhang H; Luccarrini JM; Lacombe O; Young SP; Feraille L; Tallandier M Mol Genet Metab; 2022 Feb; 135(2):143-153. PubMed ID: 34417096 [TBL] [Abstract][Full Text] [Related]
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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; 41(15):4962-71. PubMed ID: 11939792 [TBL] [Abstract][Full Text] [Related]
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19. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Tomatsu S; Montaño AM; Oguma T; Dung VC; Oikawa H; Gutiérrez ML; Yamaguchi S; Suzuki Y; Fukushi M; Barrera LA; Kida K; Kubota M; Orii T Mol Genet Metab; 2010 Feb; 99(2):124-31. PubMed ID: 19932038 [TBL] [Abstract][Full Text] [Related]
20. Mutations in ARSB in MPS VI patients in India. Mathew J; Jagadeesh SM; Bhat M; Udhaya Kumar S; Thiyagarajan S; Srinivasan S Mol Genet Metab Rep; 2015 Sep; 4():53-61. PubMed ID: 26937411 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]