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Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency

✍ Scribed by Hyung-Doo Park; You-Lim Bang; Kyoung Un Park; Jin Q Kim; Byung-Hoon Jeong; Yong-Sun Kim; Young-Han Song; Junghan Song


Book ID
116987996
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
459 KB
Volume
91
Category
Article
ISSN
1096-7192

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## Communicated by Arnold Munnich Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B 6 ) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified