MUCOPOLYSACCHARIDOSES (MAROTEAUX-LAMY): A CASE REPORT

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

HASHEMI TAYER A.; TALEBI R.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ) Year:2012 | Volume:15 | Issue:2 (61) Page(s): 119-125

Download Full-Text

Persian Verion

View:

999

Download:

Cites:

Information Journal Paper

Title

MUCOPOLYSACCHARIDOSES (MAROTEAUX-LAMY): A CASE REPORT

Author(s)

HASHEMI TAYER A. | TALEBI R. | Issue Writer Certificate

Keywords

ARYLSULFATASE BQ2

MUCOPOLYSACCHARIDOSESQ2

MAROTEAUX-LAMY SYNDROMEQ2

Abstract

Background: MUCOPOLYSACCHARIDOSES disease type VI (MPS-6) or Marteaux-Lamy syndrome is an autosomal recessive lysosome storage disease which is caused by aryl sulfatase B enzyme deficiency. Because of the accumulation of abnormal metabolites in various tissues of body due to enzyme deficiency, different clinical manifestations from mild to severe occur in the patients.Case: This study reports a case of MUCOPOLYSACCHARIDOSES disease admitted with fever, dyspnea, and pneumonia. The patient had coarse facial features, protruding tongue, dwarfism, and abdominal distension. In the urine sample, a significant amount of drmatan sulfate metabolite was found and peripheral blood smear testing indicated large and abnormal inclusions in peripheral blood neutrophils. Leukocyte aryl sulfatase B activity decreased and spine radiography reported multiple skeletal abnormalities. Differential diagnosis with other MUCOPOLYSACCHARIDOSES indicated Marteaux-Lamy.

Cites

No record.

References

No record.

Cite

APA: Copy

HASHEMI TAYER, A., & TALEBI, R.. (2012). MUCOPOLYSACCHARIDOSES (MAROTEAUX-LAMY): A CASE REPORT. ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ), 15(2 (61)), 119-125. SID. https://sid.ir/paper/381321/en

Vancouver: Copy

HASHEMI TAYER A., TALEBI R.. MUCOPOLYSACCHARIDOSES (MAROTEAUX-LAMY): A CASE REPORT. ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ)[Internet]. 2012;15(2 (61)):119-125. Available from: https://sid.ir/paper/381321/en

IEEE: Copy

A. HASHEMI TAYER, and R. TALEBI, “MUCOPOLYSACCHARIDOSES (MAROTEAUX-LAMY): A CASE REPORT,” ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ), vol. 15, no. 2 (61), pp. 119–125, 2012, [Online]. Available: https://sid.ir/paper/381321/en

Related Journal Papers