Associated Papers
ALDH18A1-related cutis laxa syndrome with cyclic vomiting.
Nozaki F et al.
Brain & Development, 2016
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Fischer-Zirnsak B et al.
American Journal of Human Genetics, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M et al.
Brain : a Journal of Neurology, 2015
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
Fischer B et al.
Molecular Genetics and Metabolism, 2014
Select a paper to view details