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Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency

✍ Scribed by Sargon Ziyeh; Ansgar Berlis; Rudolf Korinthenberg; Joachim Spreer; Martin Schumacher


Publisher
Springer-Verlag
Year
2002
Tongue
English
Weight
72 KB
Volume
32
Category
Article
ISSN
0301-0449

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Mutational spectrum of the succinate sem
✍ Shinjiro Akaboshi; Boris M. Hogema; Andrea Novelletto; Patrizia Malaspina; Gajja 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 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