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Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome

✍ Scribed by Michèl A.A.P Willemsen; Johannes R.M Cruysberg; Jan J Rotteveel; Albert L Aandekerk; Peter H.M.F Van Domburg; August F Deutman


Book ID
117017291
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
466 KB
Volume
130
Category
Article
ISSN
0002-9394

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Sjögren-Larsson syndrome: Diversity of m
✍ William B. Rizzo; Gael Carney 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB

## Communicated by Jan P. Kraus Sjo ¨gren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromosome 17p11.2 th