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Article
Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy
The ALDH18A1 gene, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS), is responsible for an autosomal recessive disease with severe developmental delay; more recently, ALDH18A1 was found to be responsible ...
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Article
Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain