Literature DB >> 5807058

Detection of heterozygotes for phenylketonuria by column chromatography and discriminatory analysis.

S Rampini, P W Anders, H C Curtius, T Marthaler.   

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Year:  1969        PMID： 5807058     DOI： 10.1203/00006450-196907000-00004

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


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  10 in total

1.  Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria.

Authors:  K Olek; K Oyanagi; P Wardenbach
Journal:  Humangenetik       Date:  1974-04-24

2.  Classic phenylketonuria: heterozygote detection during pregnancy.

Authors:  R F Griffin; M E Humienny; E C Hall; L J Elsas
Journal:  Am J Hum Genet       Date:  1973-11       Impact factor: 11.025

3.  Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninaemia.

Authors:  J M Saraiva; J W Seakins; I Smith
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method.

Authors:  F Güneral; I Ozalp; H Tatlidil
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

5.  Aberrant phenylalanine metabolism in phenylketonuria heterozygotes.

Authors:  P Guldberg; K F Henriksen; H C Lou; F Güttler
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

6.  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

7.  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

8.  Influence of the phenylalanine dose on the aromatic acid excretion in phenylketonuric heterozygotes and controls after oral loading.

Authors:  G Dahmann; K Olek; A Pravitz; P Wardenbach
Journal:  Eur J Pediatr       Date:  1978-10-12       Impact factor: 3.183

9.  Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia.

Authors:  P Lutz; H Schmidt; G Frey; H Bickel
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

10.  Recognition and sensing of low-epitope targets via ternary complexes with oligonucleotides and synthetic receptors.

Authors:  Kyung-Ae Yang; Mihaela Barbu; Marlin Halim; Payal Pallavi; Benjamin Kim; Dmitry M Kolpashchikov; Stevan Pecic; Steven Taylor; Tilla S Worgall; Milan N Stojanovic
Journal:  Nat Chem       Date:  2014-09-28       Impact factor: 24.427
  10 in total

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