Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Journal Of Inherited Metabolic Disease
Baruteau, Julien J; Jameson, Elisabeth E; Morris, Andrew A AA; Chakrapani, Anupam A; Santra, Saikat S; Vijay, Suresh S; Kocadag, Huriye H; Beesley, Clare E CE; Grunewald, Stephanie S; Murphy, Elaine E; Cleary, Maureen M; Mundy, Helen H; Abulhoul, Lara L; Broomfield, Alexander A; Lachmann, Robin R; Rahman, Yusof Y; Robinson, Peter H PH; MacPherson, Lesley L; Foster, Katharine K; Chong, W Kling WK; Ridout, Deborah A DA; Bounford, Kirsten McKay KM; Waddington, Simon N SN; Mills, Philippa B PB; Gissen, Paul P; Davison, James E JE
Publication Date: 2017-05
Variant appearance in text: ASL: 721G>A; Glu241Lys