Alkaptonuria, ochronosis and ochronotic arthropathy in mainland France and the Reunion Island. A report of clinical and molecular findings in 29 patients

Current Rheumatology Reviews

Volumn 5, Issue 2, 2009, Pages 111-125

  Aquaron, Robert ^a   De Córdoba, Santiago Rodríguez ^b   Penalva, Miguel ^b   Badens, Catherine ^c   Roux, Hubert ^d  

^a Ctr de Biochim et de Biol Molec   (France)

^b CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^c AIX MARSEILLE UNIVERSITY   (France)

^d HÔPITAL DE LA CONCEPTION   (France)

Author keywords

Alkaptonuria; Homogentisate 1,2 dioxygenase; Homogentisic acid; Ochronosis; Ochronotic arthropathy; Reunion Island

Indexed keywords

HOMOGENTISATE 1,2 DIOXYGENASE;

ADULT; AGE DISTRIBUTION; AGED; ALKAPTONURIA; ARTHROPATHY; AUTOSOMAL RECESSIVE INHERITANCE; CARDIOVASCULAR DISEASE; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; ETHNICITY; FAMILIAL INCIDENCE; FEMALE; FRAMESHIFT MUTATION; FRANCE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHIC DISTRIBUTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KIDNEY FAILURE; LIVER TRANSPLANTATION; MALE; MISSENSE MUTATION; OCHRONOSIS; PRIORITY JOURNAL; REUNION; REVIEW; SEX RATIO; SPINE DISEASE; SPLICE SITE MUTATION;

EID: 71849112388     PISSN: 15733971     EISSN: None     Source Type: Journal    
DOI: 10.2174/157339709788298419     Document Type: Review

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