Literature DB >> 9637693

An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.

C R Scriver.   

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Year:  1998        PMID： 9637693      PMCID： PMC508850          DOI： 10.1172/JCI3928

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  10 in total

Review 1.  Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.

Authors:  H Erlandsen; F Fusetti; A Martinez; E Hough; T Flatmark; R C Stevens
Journal:  Nat Struct Biol       Date:  1997-12

2.  PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Authors:  P M Nowacki; S Byck; L Prevost; C R Scriver
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

Review 3.  The clinical investigator: bewitched, bothered, and bewildered--but still beloved.

Authors:  J L Goldstein; M S Brown
Journal:  J Clin Invest       Date:  1997-06-15       Impact factor: 14.808

4.  In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings.

Authors:  E Treacy; J J Pitt; K Seller; G N Thompson; S Ramus; R G Cotton
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

5.  The molecular basis of dominance.

Authors:  H Kacser; J A Burns
Journal:  Genetics       Date:  1981 Mar-Apr       Impact factor: 4.562

6.  Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study.

Authors:  E P Treacy; J J Delente; G Elkas; K Carter; M Lambert; P J Waters; C R Scriver
Journal:  Pediatr Res       Date:  1997-10       Impact factor: 3.756

Review 7.  In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.

Authors:  P J Waters; M A Parniak; P Nowacki; C R Scriver
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

8.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

9.  Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.

Authors:  G N Thompson; D Halliday
Journal:  J Clin Invest       Date:  1990-07       Impact factor: 14.808

10.  Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased.

Authors:  F J van Spronsen; D J Reijngoud; G P Smit; G T Nagel; F Stellaard; R Berger; H S Heymans
Journal:  J Clin Invest       Date:  1998-06-15       Impact factor: 14.808
  10 in total
  1 in total

Review 1.  Garrod's foresight; our hindsight.

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982
  1 in total

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