Literature DB >> 10604154

Analysis of three mutations in Turkish children with Gaucher disease.

F Gürakan1, M Terzioğlu, N Koçak, A Yüce, H Ozen, G Ciliv, S Emre.   

Abstract

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Year:  1999        PMID： 10604154     DOI： 10.1023/a:1005668230365

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


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  2 in total

1.  Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.

Authors:  H Michelakakis; E Dimitriou; S Van Weely; R G Boot; I Mavridou; M Verhoek; J M Aerts
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

2.  Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

Authors:  A Sibille; C M Eng; S J Kim; G Pastores; G A Grabowski
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025
  2 in total
  2 in total

1.  Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Authors:  V Koprivica; D L Stone; J K Park; M Callahan; A Frisch; I J Cohen; N Tayebi; E Sidransky
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025

Review 2.  Gaucher disease: new developments in treatment and etiology.

Authors:  Ozgur Harmanci; Yusuf Bayraktar
Journal:  World J Gastroenterol       Date:  2008-07-07       Impact factor: 5.742
  2 in total

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