Amino Acid Transport Defects
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-67727-5_18
Reference60 articles.
1. Bailey CG, Ryan RM, Thoeng AD, Ng C, King K, Vanslambrouck JM, et al. Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. J Clin Invest. 2011. https://doi.org/10.1172/JCI44474.
2. Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, et al. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999. https://doi.org/10.1038/6815.
3. Bröer S. The SLC38 family of sodium-amino acid co-transporters. Pflugers Arch - Eur J Physiol. 2014. https://doi.org/10.1007/s00424-013-1393-y.
4. Bröer S, Palacín M. The role of amino acid transporters in inherited and acquired diseases. Biochem J. 2011. https://doi.org/10.1042/bj20101912.
5. Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, et al. Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. J Clin Investig. 2008. https://doi.org/10.1172/JCI36625.
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