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Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (γ-hydroxybutyric aciduria)

✍ Scribed by A Philippe; J Deron MA; D Geneviève MD; P de Lonlay; KM Gibson; D Rabier; A Munnich


Book ID
111130086
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
132 KB
Volume
46
Category
Article
ISSN
0012-1622

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## 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