Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.
Mol Genet Metab
; 110(1-2): 197, 2013.
Article
em En
| MEDLINE
| ID: mdl-23683770
Palavras-chave
ALDH7A1; Alpha-aminoadipic acid semialdehyde; CSF; CSF pipecolic acid; CSF-PA; P-PA; P6C; PA; PDE; PDE caused by ALDH7A1 genetic defect; PDE-ALDH7A1; Pipecolic acid; Pyridoxine dependent epilepsy; U-PA; alpha-aminoadipic acid semialdehyde; alpha-aminoadipic semialdehyde dehydrogenase; cerebral spinal fluid; pipecolic acid; piperidine 6-carboxylic acid; plasma pipecolic acid; pyridoxine dependent epilepsy; urine pipecolic acid; α-AASA; α-AASAD
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ácidos Pipecólicos
/
Aldeído Desidrogenase
/
Epilepsia
Limite:
Adolescent
/
Child
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article