Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by <i>ALDH7A1</i> genetic defect.
作者:
关键词
5-HIAA, 5-hydroxyindolacetic acidAlpha-amino adipic acid semialdehyde dehydrogenase deficiencyCNS, central nervous systemCSF, cerebral spinal fluidCSF-PA, CSF PACSF-α-AASA, CSF α-AASAGA-I, glutaric aciduria type IHVA, homovanillic acid levelsLysine restricted dietMSEL, Mullen Scales of Early LearningP5CR, pyrroline-5-carboxylate reductaseP6C, piperidine 6-carboxylic acidPA, pipecolic acidPDE, pyridoxine dependent epilepsyPDE-ALDH7A1, PDE caused by ALDH7A1 genetic defectPDMS-2, Peabody Developmental Motor Scales — 2nd EditionPyridoxine dependent epilepsyα AASAS, α-AASA synthaseα-AASA, alpha-aminoadipic acid semialdehydeα-AASAD, alpha-aminoadipic acid semialdehyde dehydrogenase
DOI
10.1016/j.ymgmr.2014.02.001
PMID
27896080
发布时间
2020-09-30
- 浏览56
Molecular genetics and metabolism reports
2014年1卷
124-128页
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