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Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report)

Davarian, A. and Mirbehbahani, N.B. (2008) Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report). Pakistan Journal of Biological Sciences, 11 (7). pp. 1063-1065. ISSN 10288880 (ISSN)

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Abstract

Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and results from a genetic deficiency of the enzyme glucocerebrosidase (glucosylceramidase). We report a 10-year old Iranian girl with chief complaint of anemia from 8 years ago, managed for iron deficiency anemia. The patient had hepatomegaly associated with huge splenomegaly which was confirmed by sonography. No skeletal disorder was found. Bone marrow aspiration revealed typical Gaucher cells. Low level of β-glucocerebrosidase enzyme activity confirmed the Gaucher disease. The patient is now under treatment with CEREZIME, a recombinant DNA modified form of glucocerebrosidase with good condition. © 2008 Asian Network for Scientific Information.

Item Type: Article
Additional Information: Unmapped bibliographic data: LA - English [Field not mapped to EPrints] J2 - Pak. J. Biol. Sci. [Field not mapped to EPrints] C2 - 18810981 [Field not mapped to EPrints] AD - Faculty of Medicine, Gorgan University of Medical Sciences, Gorgan, Iran [Field not mapped to EPrints] AD - Department of Oncology, Faculty of Medicine, Gorgan University of Medical Sciences, Gorgan, Iran [Field not mapped to EPrints] AD - No. 151- Farhangian Township, Shahidbeheshti Ave, 49148-18955, Gorgan City, Golestan Province, Iran [Field not mapped to EPrints] DB - Scopus [Field not mapped to EPrints]
Uncontrolled Keywords: β-glucocerebrosidase, Anemia, Gaucher disease, Huge splenomegaly, glucosylceramidase, imiglucerase, recombinant protein, anemia, article, bone marrow cell, case report, child, echography, female, Gaucher disease, genetics, hepatomegaly, human, pathology, treatment outcome, Anemia, Bone Marrow Cells, Child, Female, Gaucher Disease, Glucosylceramidase, Hepatomegaly, Humans, Recombinant Proteins, Treatment Outcome
Subjects: مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 20 Apr 2015 08:01
Last Modified: 25 Feb 2017 08:34
URI: http://eprints.goums.ac.ir/id/eprint/2311

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