Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria | Zendy

Paul A. Friedman | Zendy; Daniel B. Fisher | Zendy; Ellen S. Kang | Zendy; Seymour Kaufman | Zendy

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Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria

Author(s) -

Paul A. Friedman,

Daniel B. Fisher,

Ellen S. Kang,

Seymour Kaufman

Publication year - 1973

Publication title -

proceedings of the national academy of sciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.011

H-Index - 771

eISSN - 1091-6490

pISSN - 0027-8424

DOI - 10.1073/pnas.70.2.552

Subject(s) - phenylalanine hydroxylase , phenylalanine , tyrosine hydroxylase , enzyme , biochemistry , chemistry , phenylketonurias , liver biopsy , endocrinology , medicine , biopsy , amino acid

An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.

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