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- W1755164018 abstract "Introduction: Alkaptonuria (OMIM 203500) is an iconic autosomal recessive disease present at birth. The clinical effects are due to high circulating homogentisic acid (HGA) and high urine HGA. Oxidative conversion of circulating HGA to pigment is termed ochronosis, a process that alters tissues, resulting in the classical clinical consequences of the disease. There are very few symptoms in early life and very little is known about disease progression in childhood.Areas covered: These include commonly used diagnostic tools that can be employed to document often unrecognised manifestations including structured interview, questionnaires, physical examination and investigation. Analysis of data from systematic use of diagnostic tools can allow estimation of burden of disease as well as the evolution of disease.Expert opinion: In a condition still considered to be mainly irreversible, earlier recognition and management is desirable. This requires an urgent understanding of evolution of disease especially in the young." @default.
- W1755164018 created "2016-06-24" @default.
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- W1755164018 date "2015-05-04" @default.
- W1755164018 modified "2023-09-25" @default.
- W1755164018 title "Diagnostic tools and strategies for assessing disease progression in Alkaptonuria" @default.
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- W1755164018 doi "https://doi.org/10.1517/21678707.2015.1042859" @default.
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