Atypical Cases of Phenylketonuria

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1987 Jan 1

PMID 3319636

Citations 1

Authors

J L Dhondt

J P Farriaux

Affiliations

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Citing Articles

Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.

DiSilvestre D, Koch R, Groffen J Am J Hum Genet. 1991; 48(5):1014-6.

PMID: 2018035 PMC: 1683043.

References

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Bartholome K . Letter: A new molecular defect in phenylketonuria. Lancet. 1974; 2(7896):1580. DOI: 10.1016/s0140-6736(74)90337-7. View

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Dhondt J, Farriaux J . Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia. J Inherit Metab Dis. 1981; 4(2):59-60. DOI: 10.1007/BF02263590. View

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Dhondt J, Leroux B, Farriaux J, Largilliere C, Leeming R . Dihydrobiopterin biosynthesis deficiency. Eur J Pediatr. 1983; 141(2):92-5. DOI: 10.1007/BF00496797. View

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Smith I, Clayton B, Wolff O . New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction. Lancet. 1975; 1(7916):1108-11. DOI: 10.1016/s0140-6736(75)92498-8. View

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Curtius H, Niederwieser A, VISCONTINI M, Otten A, Schaub J, Scheibenreiter S . Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin. Clin Chim Acta. 1979; 93(2):251-62. DOI: 10.1016/0009-8981(79)90097-4. View