Clinical therapeutics for phenylketonuria
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmaceutical Science
Link
http://link.springer.com/content/pdf/10.1007/s13346-012-0067-1.pdf
Reference178 articles.
1. Christ SE. Asbjorn Folling and the discovery of phenylketonuria. J Hist Neurosci. 2003;12(1):44–54.
2. Kwok SC, Ledley FD, DiLella AG, Robson KJ, Woo SL. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry. 1985;24(3):556–61.
3. Scriver CR, Waters PJ, Sarkissian C, Ryan S, Prevost L, Cote D, et al. PAHdb: a locus-specific knowledgebase. Hum Mutat. 2000;15(1):99–104.
4. Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, et al. PAHdb 2003: what a locus-specific knowledgebase can do. Hum Mutat. 2003;21(4):333–44.
5. Kaufman S. A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients. Proc Natl Acad Sci USA. 1999;96(6):3160–4.
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1. Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients;Genes;2020-12-25
2. Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia;International Journal of Molecular Sciences;2020-07-15
3. Priming ammonia lyases and aminomutases for industrial and therapeutic applications;Current Opinion in Chemical Biology;2013-04
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