Literature DB >> 7550242

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

S Bunge1, W J Kleijer, C Steglich, M Beck, E Schwinger, A Gal.   

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Year:  1995        PMID： 7550242     DOI： 10.1002/humu.1380060119

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  9 in total

1.  Cumulative incidence rates of the mucopolysaccharidoses in Germany.

Authors:  F Baehner; C Schmiedeskamp; F Krummenauer; E Miebach; M Bajbouj; C Whybra; A Kohlschütter; C Kampmann; M Beck
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

Authors:  S Bunge; A Knigge; C Steglich; W J Kleijer; O P van Diggelen; M Beck; A Gal
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

3.  Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

Authors:  E L Aronovich; D Pan; C B Whitley
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

4.  A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.

Authors:  Korrakot Prommajan; Surasawadee Ausavarat; Chalurmpon Srichomthong; Vilavun Puangsricharern; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  Mol Vis       Date:  2011-02-11       Impact factor: 2.367

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.  Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.

Authors:  Tatiana Pineda; Sulie Marie; Janneth Gonzalez; Ana L García; Amparo Acosta; Manuel Morales; Luz N Correa; Ricardo Vivas; Xiomara Escobar; Ana Protzel; Maria Barba; Sandra Ospina; Clara Corredor; Sandra Mansilla; Harvy M Velasco
Journal:  Mol Genet Metab Rep       Date:  2014-10-30

7.  Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Authors:  E Yu Voskoboeva; T M Bookina; A N Semyachkina; S V Mikhaylova; N D Vashakmadze; G V Baydakova; E Yu Zakharova; S I Kutsev
Journal:  Front Mol Biosci       Date:  2022-01-24

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

9.  Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Authors:  Li Ou; Michael J Przybilla; Chester B Whitley
Journal:  Orphanet J Rare Dis       Date:  2017-07-04       Impact factor: 4.123
  9 in total

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