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Nine cases of Alkaptonuria in one family in southern Jordan

Overview of attention for article published in Rheumatology International, December 2010
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Title
Nine cases of Alkaptonuria in one family in southern Jordan
Published in
Rheumatology International, December 2010
DOI 10.1007/s00296-010-1701-1
Pubmed ID
Authors

Mohammed Al-sbou, Nesrin Mwafi

Abstract

Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by a deficiency of homogentisate 1,2-dioxygenase (HGO) in the liver. This results in excretion of large quantities of homogentisic acid (HGA) (also called alkapton) in the urine and a slowly progressive deposition of homogentisic acid and its oxidative product in connective tissues. Clinical characteristic features of alkaptonuria are darkening of urine, bluish-dark pigmentation of connective tissues (ochronosis) and arthritis of large joints and spine. Cardiovascular and genitourinary systems may also be affected. In this report, we present the initial results of screening family members with history of alkaptonuria in southern region of Jordan. We present 9 cases of alkaptonuria (two males and seven females) in one Jordanian family. The history, signs and symptoms, diagnostic techniques and treatment options of alkaptonuria are reviewed in this article.

Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 21%
Student > Master 2 14%
Student > Bachelor 2 14%
Professor 1 7%
Student > Doctoral Student 1 7%
Other 3 21%
Unknown 2 14%
Readers by discipline Count As %
Medicine and Dentistry 6 43%
Agricultural and Biological Sciences 2 14%
Unspecified 1 7%
Sports and Recreations 1 7%
Nursing and Health Professions 1 7%
Other 1 7%
Unknown 2 14%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 March 2013.
All research outputs
#10,837,871
of 12,226,671 outputs
Outputs from Rheumatology International
#1,013
of 1,169 outputs
Outputs of similar age
#116,082
of 139,186 outputs
Outputs of similar age from Rheumatology International
#32
of 40 outputs
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