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homogentisic acid/uziwi

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NakalaMajaribio ya klinikiHati miliki
2 matokeo

[Involvement of the tympanic membrane and ear ossicle system in ochronotic alkaptonuria].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Ochronotic alcaptonuria is a rare hereditary disease in which the metabolism of phenylalanine and tyrosine is disturbed, leading to accumulation and urinary excretion of homogentisic acid. Its affinity towards bradytroph tissues makes e.g. cartilage, tendons, sclera etc. become stained dark, hard

Recent advances in management of alkaptonuria (invited review; best practice article).

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Alkaptonuria (AKU) is an autosomal recessive condition arising as a result of a genetic deficiency of the enzyme homogentisate 1,2 dioxygenase and characterised by accumulation of homogentisic acid (HGA). Oxidative conversion of HGA leads to production of a melanin-like polymer in a process termed
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* Habari zote zinategemea utafiti wa kisayansi uliochapishwa

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