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Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl–CoA lyase deficiency

✍ Scribed by Dr Huda Y. Zoghbi; J. Edward Spence; Arthur L. Beaudet; William E. O'Brien; Clay J. Goodman; Kenneth M. Gibson


Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
549 KB
Volume
20
Category
Article
ISSN
0364-5134

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CT findings in a case of deficiency of 3
✍ G. Lisson; D. Leupold; D. Bechinger; C. Wallesch 📂 Article 📅 1981 🏛 Springer 🌐 English ⚖ 551 KB

Two CT scans have been performed on a child with a biochemically confirmed 3-HMG-CoA-lyase deficiency. Macrocephalus, widespread hypodensity of the white matter with cystic alterations and progressive dilatation of the ventricles were found. The clinical features and CT findings are surprisingly sim