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Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency

โœ Scribed by Toshihiro Shinka; Masafumi Ohfu; Shinichi Hirose; Tomiko Kuhara


Book ID
108497494
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
326 KB
Volume
792
Category
Article
ISSN
1873-376X

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Mutational spectrum of the succinate sem
โœ Shinjiro Akaboshi; Boris M. Hogema; Andrea Novelletto; Patrizia Malaspina; Gajja ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 218 KB

Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from