Alkaptonuria and intramedullary calcification.
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| ID: sea-89291
Alkaptonuria is a rare disorder of metabolism caused by deficiency of homogentisic acid oxidase enzyme and characterized by triad of homogentisic aciduria (dark urine), relentlessly progressive arthritis and ochronosis. We have documented a case with typical features of alkaptonuria along with intramedullary calcification which has not been reported in the literature before.
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Asunto principal:
Humanos
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Masculino
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Calcinosis
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Factores de Riesgo
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Progresión de la Enfermedad
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Alcaptonuria
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Homogentisato 1,2-Dioxigenasa
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Ácido Homogentísico
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Persona de Mediana Edad
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Ocronosis
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Idioma:
En
Año:
2008
Tipo del documento:
Article