Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulp...
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
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Dordrecht: Springer Netherlands
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Language
English
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Dordrecht: Springer Netherlands
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Analysis of α-aminoadipic semialdehyde is an important tool in the diagnosis of antiquitin deficiency (pyridoxine-dependent epilepsy). However continuing use of this test has revealed that elevated urinary excretion of α-aminoadipic semialdehyde is not only found in patients with pyridoxine-dependent epilepsy but is also seen in patients with molyb...
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Full title
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
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TN_cdi_proquest_miscellaneous_1112339845
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1112339845
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ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-012-9466-1
