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Monitoring γ-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency

✍ Scribed by Phillip L. Pearl; Andrea Gropman


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
94 KB
Volume
55
Category
Article
ISSN
0364-5134

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✍ Katrin Ergezinger; Reinhard Jeschke; Georg Frauendienst-Egger; Herbert Korall; K 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB

## Abstract We report the successful treatment using low‐dose vigabatrin (21.5–34mg/kg/day) of a 10‐year‐old girl with succinic semialdehyde dehydrogenase (SSADH) deficiency We verified that 4‐hydroxybutyric acid (GHB) concentrations in serum, cerebrospinal fluid, and urine continuously decreased i