Article
Genetic basis of hyperlysinemia.
Orphanet journal of rare diseases - 9 Apr 2013
Houten Sander M, Te Brinke Heleen, Denis Simone, Ruiter Jos Pn, Knegt Alida C, de Klerk Johannis Bc, Augoustides-Savvopoulou Persephone, Häberle Johannes, Baumgartner Matthias R, Coşkun Turgay, Zschocke Johannes, Sass Jörn Oliver, Poll-The Bwee Tien, Wanders Ronald Ja, Duran Marinus
Abstract excerpt
BACKGROUND: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia. METHODS: We collected the clinical, biochemical and molecular data in a cohort of 8 hyperlysinemia patients with distinct neurological features....
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