Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy
Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy
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Publisher
Heidelberg: Springer
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Language
English
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Publisher
Heidelberg: Springer
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Contents
Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable seizures (often of prenatal onset) and severe neurological abnormalities. In infants who survive, lens dislocation may occur from 8 weeks of age. The neuropathological findings in ISOD are similar to thos...
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Full title
Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy
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TN_cdi_proquest_miscellaneous_68704502
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68704502
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ISSN
0340-6199
E-ISSN
1432-1076
DOI
10.1007/s00431-005-1729-5
