Literature DB >> 8242073

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.

H S Scott1, P V Nelson, T Litjens, J J Hopwood, C P Morris.   

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Year:  1993        PMID： 8242073     DOI： 10.1093/hmg/2.9.1471

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  8 in total

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Authors:  I Maire
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

2.  A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report.

Authors:  Mana Kamranjam; Seyedeh Maryam Hosseini; Mohammadreza Alaei
Journal:  J Pediatr Genet       Date:  2019-04-03

3.  Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.

Authors:  G J Lee-Chen; T R Wang
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

4.  Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.

Authors:  S Laradi; T Tukel; M Erazo; J Shabbeer; L Chkioua; S Khedhiri; S Ferchichi; M Chaabouni; A Miled; R J Desnick
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.750

5.  Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.

Authors:  Latifa Chkioua; Souhir Khedhiri; Hadhami Ben Turkia; Rémy Tcheng; Roseline Froissart; Henda Chahed; Salima Ferchichi; Marie Françoise Ben Dridi; Christine Vianey-Saban; Sandrine Laradi; Abdelhedi Miled
Journal:  Diagn Pathol       Date:  2011-06-03       Impact factor: 2.644

6.  Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.

Authors:  Latifa Chkioua; Souhir Khedhiri; Asma Kassab; Amina Bibi; Salima Ferchichi; Roseline Froissart; Christine Vianey-Saban; Sandrine Laradi; Abdelhedi Miled
Journal:  Diagn Pathol       Date:  2011-04-26       Impact factor: 2.644

7.  Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.

Authors:  Minke H de Ru; Jaap J Boelens; Anibh M Das; Simon A Jones; Johanna H van der Lee; Nizar Mahlaoui; Eugen Mengel; Martin Offringa; Anne O'Meara; Rossella Parini; Attilio Rovelli; Karl-Walter Sykora; Vassili Valayannopoulos; Ashok Vellodi; Robert F Wynn; Frits A Wijburg
Journal:  Orphanet J Rare Dis       Date:  2011-08-10       Impact factor: 4.123

8.  Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

Authors:  Alzbeta Vazna; Clare Beesley; Linda Berna; Larisa Stolnaja; Helena Myskova; Michaela Bouckova; Hana Vlaskova; Helena Poupetova; Jiri Zeman; Martin Magner; Anna Hlavata; Bryan Winchester; Martin Hrebicek; Lenka Dvorakova
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802
  8 in total

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