These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Origins of hyperphenylalaninemia in Israel. Kleiman S, Avigad S, Vanagaite L, Shmuelevitz A, David M, Eisensmith RC, Brand N, Schwartz G, Rey F, Munnich A, Woo SL, Shiloh Y. Eur J Hum Genet; 1994 Sep; 2(1):24-34. PubMed ID: 7913865 [Abstract] [Full Text] [Related]
11. DNA haplotype analyses of patients with hyperphenylalaninemia. Di Silvestre D, Pandya A, Koch R, Groffen J. Am J Hum Genet; 1990 Oct; 47(4):706-11. PubMed ID: 2220810 [Abstract] [Full Text] [Related]
13. Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Svensson E, von Döbeln U, Eisensmith RC, Hagenfeldt L, Woo SL. Eur J Pediatr; 1993 Feb; 152(2):132-9. PubMed ID: 8444221 [Abstract] [Full Text] [Related]
14. A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria. Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo SL, Shiloh Y. Hum Genet; 1993 Feb; 90(6):645-9. PubMed ID: 8095248 [Abstract] [Full Text] [Related]