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Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis

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Abbreviations

PAH:

phenylalanine hydroxylase

Phe:

phenylalanine

PKU:

phenylketonuria

HPA:

hyperphenylalaninaemia

References

  1. Konecki DS, Lichter-Konecki U (1991) The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Hum Genet 87:377–388

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  2. Konecki DS, Schlotter M, Trefz FK, Lichter-Konecki U (1991) The identification of two missense mutations at the PAH gene locus in a Turkish patient with phenylketonuria. Hum Genet 87:389–393

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  3. Okano Y, Eisensmith R, Güttler F, Lichter-Konecki U, Konecki DS, Trefz FK, Dasovich M, Wang T, Henriksen K, Lu H, Woo SLC (1991) Molecular basis of phenotypic heterogeneity in PKU. N Engl J Med 324: 1234–1238

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  4. Trefz FK, Schmidt H, Bartholomé K, Mahlle M, Mattis P, Pecht G (1985) Differential diagnosis and significance of various hyperphenylalaninemias. In: Bickel H, Wachtel U (eds) Inherited diseases of amino acid metabolism. Thieme, Stuttgart, pp 86–100

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Author notes

  1. D. S. Konecki

    Present address: Forschungsschwerpunkt angewandte Tumorvirologie, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, D-69120, Heidelberg, Germany

  2. F. K. Tretz

    Present address: Kreiskrankenhaus, Kinderklinik, Steinenbergstrasse 31, D-72764, Reutlingen, Germany

Authors and Affiliations

  1. Universitäts-Kinderklinik, Im Neuenheimer Feld 150, D-69120, Heidelberg, Germany

    D. S. Konecki, F. K. Tretz & U. Lichter-Konecki

  2. Kinderklinik und Kinderpoliklinik, Medizinische Hochschule Hannover, Zentrum Kinderheilkunde und Humangenetik, D-30623, Hannover, Germany

    S. Schweitzer-Krantz & D. Byrd

Authors
  1. D. S. Konecki
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  2. S. Schweitzer-Krantz
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  3. D. Byrd
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  4. F. K. Tretz
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  5. U. Lichter-Konecki
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Additional information

This work was supported by Deutsche Forschungsgemeinschaft grants: Li 375/2-1/2-2 and Li 375/6-1 to U. Lichter-Konecki and by the Fritz Thyssen Foundation grant 1990/1/51 to Prof. Dr. H. J. Bremer

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Konecki, D.S., Schweitzer-Krantz, S., Byrd, D. et al. Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis. Eur J Pediatr 152, 1048–1049 (1993). https://doi.org/10.1007/BF01957239

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  • DOI: https://doi.org/10.1007/BF01957239

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