Pyridoxine‐dependent seizures in Dutch patients: diagnosis by elevated urinary alpha‐aminoadipic semialdehyde levels

BACKGROUND: Pyridoxine‐dependent seizures (PDS) is a rare, autosomal recessively inherited disorder. Recently α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency was identified as a major cause of PDS, which causes accumulation of both α‐AASA and pipecolic acid (PA) in body fluids. METHODS:...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Bok, Levinus A, Struys, Eduard, Willemsen, Michel A A P, Been, Jasper V, Jakobs, Cornelis
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2007
Matèries:
Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2083882/
https://ncbi.nlm.nih.gov/pubmed/17088338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.2006.103192
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars