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ALKAPTONURIA [1 record]
Record 1 - internal organization data 2011-09-09
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- alkaptonuria
1, record 1, English, alkaptonuria
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- alcaptonuria 2, record 1, English, alcaptonuria
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 OBS
Manifestations include elevated concentrations of homogentisic acid in urine, which darkens on standing or undergoing alkalinization; ochronosis; and arthritis. 3, record 1, English, - alkaptonuria
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- alcaptonurie
1, record 1, French, alcaptonurie
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Présence d'alcaptone dans l'urine, mise en évidence par l'apparition d'une coloration rouge sombre de l'urine exposée à l'air. 2, record 1, French, - alcaptonurie
Record number: 1, Textual support number: 1 OBS
Résultat d'une dégradation incomplète de deux acides aminés, la phénylalanine et la tyrosine, l'alcaptonurie peut ne s'accompagner d'aucun signe clinique. 2, record 1, French, - alcaptonurie
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 1, Main entry term, Spanish
- alcaptonuria
1, record 1, Spanish, alcaptonuria
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Enfermedad hereditaria muy rara caracterizada [por la presencia de alcaptón en la orina y] por una tríada típica: excreción de grandes cantidades de orina de color oscuro, ocronosis (pigmentación del tejido conjuntivo) y artrosis degenerativa de las grandes articulaciones. 1, record 1, Spanish, - alcaptonuria
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