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    Results: 1 to 20 of 325

    1.

    [Mucopolysaccharidosis type I in Morocco: clinical features and genetic profile]

    Alif N, Hess K, Straczek J, Sebbar S, Belahsen Y, Mouane N, Abkari A, Nabet P, Gelot MA.

    Arch Pediatr. 2000 Jun;7(6):597-604. French. PMID: 10911525 [PubMed - indexed for MEDLINE]Related articles

    2.

    [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. Epub 2007 Aug 28. French. PMID: 17728118 [PubMed - indexed for MEDLINE]Related articles

    3.

    Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.

    Alif N, Hess K, Straczek J, Sebbar S, N'Bou A, Nabet P, Dousset B.

    Ann Hum Genet. 1999 Jan;63(Pt 1):9-16.PMID: 10738517 [PubMed - indexed for MEDLINE]Related articles

    4.

    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.PMID: 1301941 [PubMed - indexed for MEDLINE]Related articles

    5.

    Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.

    Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ben Turkia H, Miled A, Laradi S.

    Pathol Biol (Paris). 2009 Jul;57(5):392-7. Epub 2008 Jun 26.PMID: 18584975 [PubMed - indexed for MEDLINE]Related articles

    6.

    [Mucopolysaccharidosis type I in the Cuban population]

    Menéndez-Sainz C, Zaldívar-Muñoz C, González-Quevedo A.

    Rev Neurol. 2003 Sep 16-30;37(6):525-8. Spanish. PMID: 14533069 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    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.PMID: 1301196 [PubMed - indexed for MEDLINE]Related articles

    8.

    [Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]

    Kovarik J, Vormittag W, Gebhart W, Ruthner U, Lubec G, Molzer B.

    Wien Klin Wochenschr. 1978 Dec 8;90(23):839-44. German. PMID: 154210 [PubMed - indexed for MEDLINE]Related articles

    9.

    [Mucopolysaccharidosis. A case report of Morquio's type-A disease (MPS IV-A)]

    Pagni L, Bartolozzi L, Giacchetti D.

    Minerva Stomatol. 1992 Nov;41(11):527-33. Italian. PMID: 1294876 [PubMed - indexed for MEDLINE]Related articles

    10.

    [Compound Hurler-Scheie disease in 3 siblings]

    Goldberg G, Grützner P.

    Klin Monbl Augenheilkd. 1985 Aug;187(2):120-3. German. PMID: 3932747 [PubMed - indexed for MEDLINE]Related articles

    11.

    Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme).

    Kloska A, Bohdanowicz J, Konopa G, Tylki-Szymńska A, Jakóbkiewicz-Banecka J, Czartoryska B, Liberek A, Wegrzyn A, Wegrzyn G.

    Am J Med Genet A. 2005 Dec 15;139(3):199-203.PMID: 16283671 [PubMed - indexed for MEDLINE]Related articles

    12.

    Chemical definition of the mucopolysaccharidoses.

    Constantopoulos G, Dekaban AS.

    Clin Chim Acta. 1975 Mar 24;59(3):321-36.PMID: 123832 [PubMed - indexed for MEDLINE]Related articles

    13.

    Atypical Hurler syndrome without alpha-L-iduronidase deficiency.

    Orii T, Sukegawa K, Minami R, Matsuura Y, Tsugawa S.

    Tohoku J Exp Med. 1976 Oct;120(2):113-23.PMID: 136068 [PubMed - indexed for MEDLINE]Related articles

    14.

    Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

    Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG.

    Hum Genet. 2001 Nov;109(5):503-11. Epub 2001 Oct 19.PMID: 11735025 [PubMed - indexed for MEDLINE]Related articles

    15.

    Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase.

    Mandelli J, Wajner A, Pires R, Giugliani R, Coelho JC.

    Clin Chim Acta. 2001 Oct;312(1-2):81-6.PMID: 11580912 [PubMed - indexed for MEDLINE]Related articles

    16.

    [Mucopolysaccharidosis IS: Scheie's syndrome. A report of 2 brothers]

    Bonora G, Frattini D, Nedbal M, Massironi C, Perletti L.

    Pediatr Med Chir. 1991 Nov-Dec;13(6):631-6. Review. Italian. PMID: 1839643 [PubMed - indexed for MEDLINE]Related articles

    17.

    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.PMID: 15081804 [PubMed - indexed for MEDLINE]Related articles

    18.

    Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses.

    Gallegos-Arreola MP, Machorro-Lazo MV, Flores-Martínez SE, Zúñiga-González GM, Figuera LE, González-Noriega A, Sánchez-Corona J.

    Arch Med Res. 2000 Sep-Oct;31(5):505-10.PMID: 11179586 [PubMed - indexed for MEDLINE]Related articles

    19.

    Mucopolysaccharidosis type V. (Scheie syndrome). A postmortem study by multidisciplinary techniques with emphasis on the brain.

    Dekaban AS, Constantopoulos G, Herman MM, Steusing JK.

    Arch Pathol Lab Med. 1976 May;100(5):237-45.PMID: 817693 [PubMed - indexed for MEDLINE]Related articles

    20.

    Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

    Yamagishi A, Tomatsu S, Fukuda S, Uchiyama A, Shimozawa N, Suzuki Y, Kondo N, Sukegawa K, Orii T.

    Hum Mutat. 1996;7(1):23-9.PMID: 8664897 [PubMed - indexed for MEDLINE]Related articles

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