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Article

Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.

Joint bone spine - 1 May 2006

Ladjouze-Rezig Aicha, Rodriguez de Cordoba Santiago, Aquaron Robert

Abstract excerpt

OBJECTIVES: To confirm alkaptonuria and ochronotic arthropathy diagnosis by mutation screening of the homogentisate 1,2-dioxygenase (HGD) gene. Try to establish a genotype-phenotype correlation in the five subjects with a molecular study on HGD gene. METHODS: We report 14 alkaptonuria cases (10 men and four women) in 11 Algerian families. Consanguineous matings were evidenced in only three families (F = 1/16)....

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Identifiers

PMID: 16085442
DOI: 10.1016/j.jbspin.2005.03.010

Genes

HGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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