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16 in total

1. Novel PKU mutation on haplotype 2 in French-Canadians.

Authors: S W John; R Rozen; R Laframboise; C Laberge; C R Scriver
Journal: Am J Hum Genet Date: 1989-12 Impact factor: 11.025

Review 2. Structure and function of the aromatic amino acid hydroxylases.

Authors: S E Hufton; I G Jennings; R G Cotton
Journal: Biochem J Date: 1995-10-15 Impact factor: 3.857

3. Significance of the in vivo deuterated phenylalanine load for long-term phenylalanine tolerance and psycho-intellectual outcome in patients with PKU.

Authors: F K Trefz; U Batzler; T König; U Michel; E Schmidt; H Schmidt; H Bickel
Journal: Eur J Pediatr Date: 1990 Impact factor: 3.183

4. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families.

Authors: E Svensson; U von Döbeln; L Hagenfeldt
Journal: Hum Genet Date: 1991-05 Impact factor: 4.132

5. The activity of the highly inducible mouse phenylalanine hydroxylase gene promoter is dependent upon a tissue-specific, hormone-inducible enhancer.

Authors: D M Faust; A M Catherin; S Barbaux; L Belkadi; T Imaizumi-Scherrer; M C Weiss
Journal: Mol Cell Biol Date: 1996-06 Impact factor: 4.272

6. A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.

Authors: M Weinstein; R C Eisensmith; V Abadie; S Avigad; S Lyonnet; G Schwartz; A Munnich; S L Woo; Y Shiloh
Journal: Hum Genet Date: 1993-02 Impact factor: 4.132

7. Molecular analysis of 11 galactosemia patients.

Authors: J K Reichardt
Journal: Nucleic Acids Res Date: 1991-12 Impact factor: 16.971

8. Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

Authors: B A Citron; S Kaufman; S Milstien; E W Naylor; C L Greene; M D Davis
Journal: Am J Hum Genet Date: 1993-09 Impact factor: 11.025

9. Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase.

Authors: J D McDonald; V C Bode; W F Dove; A Shedlovsky
Journal: Proc Natl Acad Sci U S A Date: 1990-03 Impact factor: 11.205

10. Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

Authors: S W John; R Rozen; C R Scriver; R Laframboise; C Laberge
Journal: Am J Hum Genet Date: 1990-05 Impact factor: 11.025