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PUBMED FOR HANDHELDS

Journal Abstract Search

150 related items for PubMed ID: 22030348

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  • 5. [Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].
    Chkioua L, Khedhiri S, Jaidane Z, Ferchichi S, Habib S, Froissart R, Bonnet V, Chaabouni M, Dandana A, Jrad T, Limem H, Maire I, Abdelhedi M, Laradi S.
    Arch Pediatr; 2007 Oct; 14(10):1183-9. PubMed ID: 17728118
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  • 12. 18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I.
    Pjetraj D, Santoro L, Sgattoni C, Padella L, Zampini L, Monachesi C, Gabrielli O, Catassi C.
    Am J Med Genet A; 2023 Feb; 191(2):564-569. PubMed ID: 36333985
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  • 13. 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 Feb; 1(4):333-9. PubMed ID: 1301941
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  • 15. Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.
    Chkioua L, Khedhiri S, Ben Turkia H, Chahed H, Ferchichi S, Ben Dridi MF, Laradi S, Miled A.
    Diagn Pathol; 2011 Nov 10; 6():113. PubMed ID: 22074387
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  • 16. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
    Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA.
    J Mol Biol; 2004 Apr 30; 338(3):453-62. PubMed ID: 15081804
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  • 17. An 8-year-old girl with a history of stiff and painful joints.
    Raiman J, D'Aco K.
    Pediatr Ann; 2014 Aug 30; 43(8):307-9. PubMed ID: 25102484
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  • 20. 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 30; 96(4):281-289. PubMed ID: 31194252
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