Literature DB >> 19821146

Effort bruising disclosing Gaucher disease in a 55-year-old non-Jewish woman.

M Machaczka1, M Klimkowska2, H Hägglund3.   

Abstract

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Year:  2009        PMID： 19821146     DOI： 10.1007/s10545-009-1217-6

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


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  1 in total

1.  Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention.

Authors:  Pramod K Mistry; Sara Sadan; Ruhua Yang; John Yee; Mei Yang
Journal:  Am J Hematol       Date:  2007-08       Impact factor: 10.047
  1 in total
  2 in total

1.  Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.

Authors:  Maciej Machaczka; Monika Klimkowska
Journal:  Ann Hematol       Date:  2014-02-28       Impact factor: 3.673

2.  The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.

Authors:  Nadia Sawicka-Gutaj; Maciej Machaczka; Izabela Kulińska-Niedziela; Jadwiga Bernardczyk-Meller; Paweł Gutaj; Jerzy Sowiński; Marek Ruchała
Journal:  Ups J Med Sci       Date:  2016-04-11       Impact factor: 2.384
  2 in total

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