Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading

doi:10.1023/a:1005584627797

Case Reports

. 1999 May;22(3):216-20.

doi: 10.1023/a:1005584627797.

Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading

N Blau¹, B Thöny, A Renneberg, J M Penzien, K Hyland, G F Hoffmann

Affiliations

PMID: 10384371
DOI: 10.1023/a:1005584627797

Case Reports

Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading

N Blau et al. J Inherit Metab Dis. 1999 May.

. 1999 May;22(3):216-20.

doi: 10.1023/a:1005584627797.

Authors

N Blau¹, B Thöny, A Renneberg, J M Penzien, K Hyland, G F Hoffmann

Affiliation

¹ Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland. blau@kispi.unizh.ch

PMID: 10384371
DOI: 10.1023/a:1005584627797

No abstract available

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References

1. Eur J Pediatr. 1993 Aug;152(8):655-61 - PubMed
1. Pediatr Res. 1993 Feb;33(2):125-8 - PubMed
1. Neurology. 1997 May;48(5):1290-7 - PubMed
1. J Inherit Metab Dis. 1998 Jun;21(4):433-4 - PubMed

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[1] Eur J Pediatr. 1993 Aug;152(8):655-61 - PubMed

[2] Eur J Pediatr. 1993 Aug;152(8):655-61 - PubMed

[3] Pediatr Res. 1993 Feb;33(2):125-8 - PubMed

[4] Pediatr Res. 1993 Feb;33(2):125-8 - PubMed

[5] Neurology. 1997 May;48(5):1290-7 - PubMed

[6] Neurology. 1997 May;48(5):1290-7 - PubMed

[7] J Inherit Metab Dis. 1998 Jun;21(4):433-4 - PubMed

[8] J Inherit Metab Dis. 1998 Jun;21(4):433-4 - PubMed

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Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading

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