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 *

529 related articles for article (PubMed ID: 21624210)

  • 1. [Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].
    Wang XN; Wei M; Shi HP; Qiu ZQ; Yao FX; Meng Y; Zhang WM
    Zhonghua Er Ke Za Zhi; 2011 Apr; 49(4):306-10. PubMed ID: 21624210
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
    Yogalingam G; Guo XH; Muller VJ; Brooks DA; Clements PR; Kakkis ED; Hopwood JJ
    Hum Mutat; 2004 Sep; 24(3):199-207. PubMed ID: 15300847
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
    Kwak MJ; Huh R; Kim J; Park HD; Cho SY; Jin DK
    BMC Med Genet; 2016 Aug; 17(1):58. PubMed ID: 27520059
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [IDUA gene mutation analysis and prenatal diagnosis of two families affected with mucopolysaccharidosis type I].
    Yang X; Mei S; Kong X; Zhao Z; Cai A; Yao J; Li Y; Qin Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):347-351. PubMed ID: 28604952
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
    Scott HS; Bunge S; Gal A; Clarke LA; Morris CP; Hopwood JJ
    Hum Mutat; 1995; 6(4):288-302. PubMed ID: 8680403
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type].
    WANG XN; SHI HP; ZHANG WM; QIU ZQ; MENG Y; YAO FX; WEI M
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):147-51. PubMed ID: 21462124
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.
    Li Y; Tang X; Meng Y; Luo G; Yu X
    J Genet; 2019 Sep; 98():. PubMed ID: 31544795
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.
    Amr K; Katoury A; Abdel-Hamid M; Bassiouni R; Ibrahim M; Fateen E
    Genet Test Mol Biomarkers; 2009 Dec; 13(6):761-4. PubMed ID: 19839758
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.
    Tebani A; Zanoutene-Cheriet L; Adjtoutah Z; Abily-Donval L; Brasse-Lagnel C; Laquerrière A; Marret S; Chalabi Benabdellah A; Bekri S
    Int J Mol Sci; 2016 May; 17(5):. PubMed ID: 27196898
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.
    Bremer S; Ohlsson A; Brodtkorb E; Rootwelt H; Rootwelt T; Woldseth B; Mørkrid L
    Mol Genet Metab; 2011 Nov; 104(3):289-94. PubMed ID: 21831683
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
    Chkioua L; Boudabous H; Jaballi I; Grissa O; Turkia HB; Tebib N; Laradi S
    Diagn Pathol; 2018 May; 13(1):35. PubMed ID: 29843745
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.
    Laradi S; Tukel T; Erazo M; Shabbeer J; Chkioua L; Khedhiri S; Ferchichi S; Chaabouni M; Miled A; Desnick RJ
    J Inherit Metab Dis; 2005; 28(6):1019-26. PubMed ID: 16435195
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
    Zhou YA; Li P; Zhang Y; Xiong Q; Li C; Zhao Z; Wang Y; Xiao H
    Mol Genet Genomic Med; 2020 Jan; 8(1):e1058. PubMed ID: 31758674
    [TBL] [Abstract][Full Text] [Related]  

  • 15. p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
    Ngiwsara L; Ketudat-Cairns JR; Sawangareetrakul P; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Tim-Aroon T; Wattanasirichaigoon D; Svasti J
    Ann Hum Genet; 2018 May; 82(3):150-157. PubMed ID: 29282708
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation Analysis of the
    Kamranjam M; Alaei M
    Genet Test Mol Biomarkers; 2019 Aug; 23(8):515-522. PubMed ID: 31298590
    [No Abstract]   [Full Text] [Related]  

  • 17. Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
    Chkioua L; Khedhiri S; Turkia HB; Tcheng R; Froissart R; Chahed H; Ferchichi S; Ben Dridi MF; Vianey-Saban C; Laradi S; Miled A
    Diagn Pathol; 2011 Jun; 6():47. PubMed ID: 21639919
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
    Scott HS; Litjens T; Hopwood JJ; Morris CP
    Hum Mutat; 1992; 1(2):103-8. PubMed ID: 1301196
    [TBL] [Abstract][Full Text] [Related]  

  • 19. alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
    Scott HS; Litjens T; Nelson PV; Brooks DA; Hopwood JJ; Morris CP
    Hum Mutat; 1992; 1(4):333-9. PubMed ID: 1301941
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.
    Taghikhani M; Khatami S; Abdi M; Hakhamaneshi MS; Alaei MR; Zamanfar D; Vakili R
    J Clin Lab Anal; 2019 Oct; 33(8):e22963. PubMed ID: 31386236
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 27.