alcaptonuria


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Related to alcaptonuria: tyrosinemia, ochronosis
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Noun1.alcaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urinealcaptonuria - a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
alkaptonuria
metabolic disorder - a disorder or defect of metabolism
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Studies of Alcaptonuria: Inheritance of 47 Cases in Eight Highly Inter-related Dominican Kindreds.
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience
En el caso de la tirosinemia, esta puede ser de varios tipos: tipo I (hepatorenal), tipo II (oculocutanea), tipo III, alcaptonuria o Hawkinsinuria, que son causadas por desordenes geneticos de diferentes enzimas de la ruta metabolica de la tirosina.
CB-003: Experiencia diagnostica en aminoacidopatias en el Laboratorio de Bioquimica Genetica de la Universidad del Zulia
The authors thank the alkaptonuric patient who generously donated her aortic valve for the present study and AimAKU (Associazione Italiana Malati di Alcaptonuria, ORPHA263402).
Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient
The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem 1958;230:251-60.
A previously undiagnosed case of alkaptonuria: a case report: daha once tani konulmamis alkaptonuri: olgu sunumu
Alcaptonuria (black urine disease) is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism with hiperpigmentation of skin, sclera, cartilages, degenerative ochronic arthropathies.
Black aorta in a patient with alkaptonuric ochronosis/Alkaptonurik okronozis'li bir hastada siyah aort

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