A quantitative assessment of alkaptonuria: Testing the reliability of two disease severity scoring s...
A quantitative assessment of alkaptonuria: Testing the reliability of two disease severity scoring systems
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Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
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Publisher
Dordrecht: Springer Netherlands
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Scope and Contents
Contents
Alkaptonuria (AKU) is due to excessive homogentisic acid accumulation in body fluids due to lack of enzyme homogentisate dioxygenase leading in turn to varied clinical manifestations mainly by a process of conversion of HGA to a polymeric melanin-like pigment known as ochronosis. A potential treatment, a drug called nitisinone, to decrease formatio...
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Full title
A quantitative assessment of alkaptonuria: Testing the reliability of two disease severity scoring systems
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TN_cdi_crossref_primary_10_1007_s10545_011_9367_8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1007_s10545_011_9367_8
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-011-9367-8
