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Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency.

AuthorsEduard A Struys, C Jakobs
JournalMolecular genetics and metabolism (Mol Genet Metab) Vol. 91 Issue 4 Pg. 405 (Aug 2007) ISSN: 1096-7192 [Print] United States
PMID17560822 (Publication Type: Comment, Letter)
Chemical References
  • Biomarkers
  • ALDH7A1 protein, human
  • Aldehyde Dehydrogenase
Topics
  • Aldehyde Dehydrogenase (deficiency, genetics)
  • Biomarkers
  • Humans
  • Polymorphism, Single Nucleotide
  • Seizures (enzymology, etiology, genetics)

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