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10 in total

Review 1. Undiagnosed phenylketonuria in adult women: a hidden public health problem.

Authors: W B Hanley; J T Clarke; W E Schoonheyt
Journal: CMAJ Date: 1990-09-15 Impact factor: 8.262

Review 2. Phenylketonuria and its variations. A review of recent developments.

Authors: M E Blaskovics; T L Nelson
Journal: Calif Med Date: 1971-07

3. Problems of phenylketonuria.

Authors:
Journal: Br Med J Date: 1971-12-18

4. Classical and mild phenylketonuria in a family.

Authors: N A Coutts; W M Fyfe
Journal: Arch Dis Child Date: 1971-08 Impact factor: 3.791

5. Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.

Authors: P Guldberg; H L Levy; R Koch; C M Berlin; B Francois; K F Henriksen; F Güttler
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982

6. Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.

Authors: U Langenbeck; P Burgard; U Wendel; M Lindner; J Zschocke
Journal: J Inherit Metab Dis Date: 2009-07-16 Impact factor: 4.982

7. Ethnic variation in genetic disease: possible roles of hitchhiking and epistasis.

Authors: D K Wagener; L L Cavalli-Sforza
Journal: Am J Hum Genet Date: 1975-05 Impact factor: 11.025

8. [Urinary phenylalanine metabolites in hyperphenylalaninemia (author's transl)].

Authors: P Koepp
Journal: Klin Wochenschr Date: 1976-11-01

9. Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.

Authors: S Avigad; S Kleiman; M Weinstein; B E Cohen; G Schwartz; S L Woo; Y Shiloh
Journal: Am J Hum Genet Date: 1991-08 Impact factor: 11.025

Review 10. Newborn screening 50 years later: access issues faced by adults with PKU.

Authors: Susan A Berry; Christine Brown; Mitzie Grant; Carol L Greene; Elaina Jurecki; Jean Koch; Kathryn Moseley; Ruth Suter; Sandra C van Calcar; Judy Wiles; Stephen Cederbaum
Journal: Genet Med Date: 2013-03-07 Impact factor: 8.822

10 in total