Literature DB >> 7001231

Phenylketonuria: epitome of human biochemical genetics (first of two parts).

C R Scriver, C L Clow.   

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Year:  1980        PMID: 7001231     DOI: 10.1056/NEJM198012043032305

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  23 in total

Review 1.  Research on genes: promises and limitations.

Authors:  S N Young; R M Palmour
Journal:  J Psychiatry Neurosci       Date:  1999-09       Impact factor: 6.186

Review 2.  Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.

Authors:  R G Cotton
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Clinical application of somatic gene therapy in inborn errors of metabolism.

Authors:  F D Ledley
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  When your sources talk back: toward a multimodal approach to scientific biography.

Authors:  Nathaniel Comfort
Journal:  J Hist Biol       Date:  2011       Impact factor: 1.326

5.  Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Authors:  Christineh N Sarkissian; Alejandra Gamez; Patrick Scott; Jerome Dauvillier; Alejandro Dorenbaum; Charles R Scriver; Raymond C Stevens
Journal:  JIMD Rep       Date:  2011-12-06

Review 6.  Molecular genetics of phenylketonuria and its implications.

Authors:  H L Levy
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

7.  Evidence for inhibition of exodus of small neutral amino acids from non-brain tissues in hyperphenylalaninaemic rats.

Authors:  C de Cespedes; J G Thoene; K Lowler; H N Christensen
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

8.  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

9.  GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.

Authors:  J Marvit; A G DiLella; K Brayton; F D Ledley; K J Robson; S L Woo
Journal:  Nucleic Acids Res       Date:  1987-07-24       Impact factor: 16.971

10.  Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria.

Authors:  M L Bauman; T L Kemper
Journal:  Acta Neuropathol       Date:  1982       Impact factor: 17.088

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