These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 35005816)

  • 21. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
    Zahoor MY; Cheema HA; Ijaz S; Anjum MN; Ramzan K; Bhinder MA
    J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1221-1227. PubMed ID: 31473686
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [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]  

  • 23. Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
    Lin WD; Lin SP; Wang CH; Hwu WL; Chuang CK; Lin SJ; Tsai Y; Chen CP; Tsai FJ
    Clin Chim Acta; 2008 Aug; 394(1-2):89-93. PubMed ID: 18486607
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
    Clarke LA; Giugliani R; Guffon N; Jones SA; Keenan HA; Munoz-Rojas MV; Okuyama T; Viskochil D; Whitley CB; Wijburg FA; Muenzer J
    Clin Genet; 2019 Oct; 96(4):281-289. PubMed ID: 31194252
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.
    Kadali S; Naushad SM; Radha Rama Devi A; Bodiga VL
    Mol Cell Biochem; 2019 Aug; 458(1-2):27-37. PubMed ID: 30903511
    [TBL] [Abstract][Full Text] [Related]  

  • 26. ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
    Raj K; Berman-Booty L; Foureman P; Giger U
    Anim Genet; 2020 Dec; 51(6):982-986. PubMed ID: 32985704
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis].
    Malm G; Bondeson ML; von Döbeln U; Månsson JE
    Lakartidningen; 2002 Apr; 99(16):1804-9. PubMed ID: 12043480
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
    Kantaputra PN; Kayserili H; Guven Y; Kantaputra W; Balci MC; Tanpaiboon P; Tananuvat N; Uttarilli A; Dalal A
    Am J Med Genet A; 2014 Jun; 164A(6):1443-53. PubMed ID: 24677745
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
    Tomanin R; Karageorgos L; Zanetti A; Al-Sayed M; Bailey M; Miller N; Sakuraba H; Hopwood JJ
    Hum Mutat; 2018 Dec; 39(12):1788-1802. PubMed ID: 30118150
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
    Ittiwut C; Boonbuamas S; Srichomthong C; Ittiwut R; Suphapeetiporn K; Shotelersuk V
    Genet Test Mol Biomarkers; 2017 Jan; 21(1):58-62. PubMed ID: 27797586
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families.
    Xie J; Pan J; Guo D; Pan W; Li R; Guo C; Du M; Jiang W; Guo Y
    Gene; 2019 Feb; 686():261-269. PubMed ID: 30458289
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mucopolysaccharidosis type I: clinical and biochemical study.
    Bassyouni HT; Afifi HH; el-Awadi MK; Meguid NA
    East Mediterr Health J; 2000; 6(2-3):359-66. PubMed ID: 11556024
    [TBL] [Abstract][Full Text] [Related]  

  • 35. IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
    Ghosh A; Mercer J; Mackinnon S; Yue WW; Church H; Beesley CE; Broomfield A; Jones SA; Tylee K
    Hum Mutat; 2017 Nov; 38(11):1555-1568. PubMed ID: 28752568
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
    Zhao H; Wang L; Zhang M; Wang H; Zhang S; Wu J; Tang Y
    J Cell Mol Med; 2024 Apr; 28(8):e18307. PubMed ID: 38613342
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
    Laradi S; Tukel T; Khediri S; Shabbeer J; Erazo M; Chkioua L; Chaabouni M; Ferchichi S; Miled A; Desnick RJ
    Mol Genet Metab; 2006 Mar; 87(3):213-8. PubMed ID: 16378744
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular genetic assay of mucopolysaccharidosis IVA in South China.
    He D; Huang Y; Ou Z; Sheng H; Li S; Zhao X; Li R; Zheng J; Liu L
    Gene; 2013 Dec; 532(1):46-52. PubMed ID: 24035930
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
    Jurecka A; Zakharova E; Cimbalistiene L; Gusina N; Kulpanovich A; Golda A; Opoka-Winiarska V; Piotrowska E; Voskoboeva E; Tylki-Szymańska A
    Am J Med Genet A; 2013 Jun; 161A(6):1291-9. PubMed ID: 23633437
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.
    Albano LM; Sugayama SS; Bertola DR; Andrade CE; Utagawa CY; Puppi F; Nader HB; Toma L; Coelho J; Leistner S; Burin M; Giugliani R; Chong AK
    Rev Hosp Clin Fac Med Sao Paulo; 2000; 55(6):213-8. PubMed ID: 11313661
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.