ArticleRheumatology international2012
Nine cases of Alkaptonuria in one family in southern Jordan.
Article in Rheumatology international, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.European journal of human genetics : EJHG · 2019Trial
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.Scientific reports · 2023Article
- Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations.Orthopedic research and reviews · 2023Article
- A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.Scientific reports · 2022Article
- Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review.Asian biomedicine : research, reviews and news · 2021Article
- Alkaptonuria: Current Perspectives.The application of clinical genetics · 2020Review
- Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.European journal of human genetics : EJHG · 2016Article
- Spontaneous Achilles tendon rupture in alkaptonuria.Saudi medical journal · 2015Article
- Three cases of alkaptonuria in one family in Mazandaran Province, Iran.Caspian journal of internal medicine · 2013Article
- Identification of forty cases with alkaptonuria in one village in Jordan.Rheumatology international · 2012Article
- An update on molecular genetics of Alkaptonuria (AKU).Journal of inherited metabolic disease · 2011Article
- Urological Aspects in Patients with Alkaptonuria: A Case-Control Study.American journal of men's healthArticle
- Alkaptonuria, more than just a mere disease.Journal of neurosciences in rural practiceArticle
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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