Literature DB >> 431997

Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants.

F Rey, F Blandin-Savoja, J Rey.   

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Year:  1979        PMID： 431997     DOI： 10.1203/00006450-197901000-00005

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


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  8 in total

1.  Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

Authors:  F Rey; M Berthelon; C Caillaud; S Lyonnet; V Abadie; F Blandin-Savoja; J Feingold; J M Saudubray; J Frézal; A Munnich
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

2.  Intellectual and school performances in early-treated classical PKU patients. The French collaborative study.

Authors:  J M Saudubray; F Rey; H Ogier; V Abadie; J P Farriaux; J Ghisolfi; P Guibaud; J Rey; M Vidailhet
Journal:  Eur J Pediatr       Date:  1987       Impact factor: 3.183

Review 3.  Atypical cases of phenylketonuria.

Authors:  J L Dhondt; J P Farriaux
Journal:  Eur J Pediatr       Date:  1987       Impact factor: 3.183

4.  Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

Authors:  S Lyonnet; C Caillaud; F Rey; M Berthelon; J Frézal; J Rey; A Munnich
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

5.  In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.

Authors:  P Guldberg; I Mikkelsen; K F Henriksen; H C Lou; F Güttler
Journal:  Eur J Pediatr       Date:  1995-07       Impact factor: 3.183

6.  Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.

Authors:  U Langenbeck
Journal:  J Inherit Metab Dis       Date:  2008-01-22       Impact factor: 4.982

7.  Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

Authors:  F J van Spronsen; M van Rijn; B Dorgelo; M Hoeksma; A M Bosch; M F Mulder; J B C de Klerk; T de Koning; M Estela Rubio-Gozalbo; M de Vries; P H Verkerk
Journal:  J Inherit Metab Dis       Date:  2009-01-10       Impact factor: 4.982

8.  Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.

Authors:  F Rey; R J Leeming; J A Blair; J Rey
Journal:  Arch Dis Child       Date:  1980-08       Impact factor: 3.791
  8 in total

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