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PMID: 6790838 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

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

Journal of inherited metabolic disease ·Vol. 4 ·No. 2 ·1981-00-00 ·Pages 101-2

Trefz FK, Bartholomé K, Bickel H, Lutz P, Schmidt H, Seyberth HW

Abstract

暂无摘要

MeSH Terms

Humans Hydroxylation Infant Liver/enzymology Phenylalanine/blood Phenylalanine Hydroxylase/metabolism Phenylketonurias/metabolism

Chemicals

Phenylalanine Phenylalanine Hydroxylase

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Trefz F K

Bartholomé K

Bickel H

Lutz P

Schmidt H

Seyberth H W

References (5)

5 references, click to expand

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.
Clin Chim Acta. 1979 Dec 17;99(3):211-30 PMID: 519859
Phenylalaninaemia. Differential diagnosis.
Arch Dis Child. 1974 Nov;49(11):835-43 PMID: 4441120
Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.
Clin Chim Acta. 1979 Apr 16;93(2):251-62 PMID: 445845
Determination of deuterium-labeled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry.
Clin Chim Acta. 1976 Dec;73(3):431-8 PMID: 1000861
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.
Pediatr Res. 1975 Dec;9(12):899-903 PMID: 1196708

Article Info

Journal

Journal of inherited metabolic disease

Abbr.

J Inherit Metab Dis

ISSN

0141-8955

DOI

Published

1981-00-00

Pages

101-2

Language

English

Region

United States

NLM ID

7910918

Subset

External Links

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