Literature DB >> 6790838

In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants.

F K Trefz, K Bartholomé, H Bickel, P Lutz, H Schmidt, H W Seyberth.   

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Year:  1981        PMID： 6790838     DOI： 10.1007/BF02263611

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.

Authors:  H C Curtius; A Niederwieser; M Viscontini; A Otten; J Schaub; S Scheibenreiter; H Schmidt
Journal:  Clin Chim Acta       Date:  1979-04-16       Impact factor: 3.786

2.  Phenylalaninaemia. Differential diagnosis.

Authors:  M E Blaskovics; G E Schaeffler; S Hack
Journal:  Arch Dis Child       Date:  1974-11       Impact factor: 3.791

3.  Determination of deuterium-labeled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry.

Authors:  F K Trefz; D J Byrd; M E Blaskovics; W Kochen; P Lutz
Journal:  Clin Chim Acta       Date:  1976-12       Impact factor: 3.786

4.  Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.

Authors:  K Bartholomé; P Lutz; H Bickel
Journal:  Pediatr Res       Date:  1975-12       Impact factor: 3.756

5.  Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography.

Authors:  F K Trefz; T Erlenmaier; D H Hunneman; K Bartholomé; P Lutz
Journal:  Clin Chim Acta       Date:  1979-12-17       Impact factor: 3.786
  5 in total
  10 in total

1.  Study design and description of patients.

Authors:  P Lutz; H Schmidt; U Batzler
Journal:  Eur J Pediatr       Date:  1990       Impact factor: 3.183

Review 2.  Atypical cases of phenylketonuria.

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

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.  A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia.

Authors:  Y Okano; R C Eisensmith; M Dasovich; T Wang; F Güttler; S L Woo
Journal:  Eur J Pediatr       Date:  1991-03       Impact factor: 3.183

5.  Maternal non-phenylketonuric mild hyperphenylalaninemia.

Authors:  H L Levy; S E Waisbren; D Lobbregt; E Allred; A Leviton; R Koch; W B Hanley; B Rouse; R Matalon; F de la Cruz
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

6.  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

7.  Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.

Authors:  H G Eiken; P M Knappskog; K Motzfeldt; H Boman; J Apold
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

8.  Compound heterozygotes in hyperphenylalaninaemia.

Authors:  K Bartholomé; K Olek; F Trefz
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

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

10.  Genetic analysis of treated and untreated phenylketonuria in one family.

Authors:  L A Tyfield; A L Meredith; M J Osborn; R Primavesi; T L Chambers; J B Holton; P S Harper
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318
  10 in total

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