Literature DB >> 11286389

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.

M J Coll1, C Antón, A Chabás.   

Abstract

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Year:  2001        PMID： 11286389     DOI： 10.1023/a:1005627311402

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  The molecular basis of Sanfilippo syndrome type B.

Authors:  H G Zhao; H H Li; G Bach; A Schmidtchen; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1996-06-11       Impact factor: 11.205

2.  Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

Authors:  M Montfort; L Vilageliu; N Garcia-Giralt; S Guidi; M J Coll; A Chabás; D Grinberg
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

3.  Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

Authors:  B Weber; X H Guo; W J Kleijer; J J van de Kamp; B J Poorthuis; J J Hopwood
Journal:  Eur J Hum Genet       Date:  1999-01       Impact factor: 4.246

4.  NAGLU mutations underlying Sanfilippo syndrome type B.

Authors:  A Schmidtchen; D Greenberg; H G Zhao; H H Li; Y Huang; P Tieu; H Z Zhao; S Cheng; Z Zhao; C B Whitley; P Di Natale; E F Neufeld
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

5.  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
  5 in total
  5 in total

1.  Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

Authors:  C E Beesley; M Jackson; E P Young; A Vellodi; B G Winchester
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Authors:  Marlies J Valstar; Hennie T Bruggenwirth; Renske Olmer; Ron A Wevers; Frans W Verheijen; Ben J Poorthuis; Dicky J Halley; Frits A Wijburg
Journal:  J Inherit Metab Dis       Date:  2010-09-18       Impact factor: 4.982

Review 3.  Sanfilippo syndrome: a mini-review.

Authors:  M J Valstar; G J G Ruijter; O P van Diggelen; B J Poorthuis; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

4.  Natural history of Sanfilippo syndrome in Spain.

Authors:  Verónica Delgadillo; Maria del Mar O'Callaghan; Laura Gort; Maria Josep Coll; Mercedes Pineda
Journal:  Orphanet J Rare Dis       Date:  2013-12-06       Impact factor: 4.123

5.  Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

Authors:  Marta Gómez-Grau; Elena Garrido; Mónica Cozar; Víctor Rodriguez-Sureda; Carmen Domínguez; Concepción Arenas; Richard A Gatti; Bru Cormand; Daniel Grinberg; Lluïsa Vilageliu
Journal:  PLoS One       Date:  2015-08-19       Impact factor: 3.240
  5 in total

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