PMID: 4405625Feb 1, 1973

Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria

Proceedings of the National Academy of Sciences of the United States of America
P A FriedmanS Kaufman


An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 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.


Jul 2, 1971·Biochemical and Biophysical Research Communications·J H TongN L Benoiton
Oct 1, 1969·Archives of Biochemistry and Biophysics·S Kaufman
May 1, 1969·Biochemical Pharmacology·E JequierA Sjoerdsma
May 1, 1965·Biochemical Pharmacology·S UDENFRIENDT Nagatsu
Apr 1, 1957·Proceedings of the Society for Experimental Biology and Medicine·H W WALLACEA MEISTER
Apr 1, 1957·Proceedings of the Society for Experimental Biology and Medicine·C MITOMAS UDENFRIEND
Feb 17, 1965·Biochemical and Biophysical Research Communications·M IKEDAS UDENFRIEND


Sep 8, 1978·European Journal of Pediatrics·H GröbeS Kaufman
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Oct 16, 1975·The New England Journal of Medicine·S KaufmanA Krumholz
Sep 28, 1978·The New England Journal of Medicine·S KaufmanS Pueschel
Dec 4, 1980·The New England Journal of Medicine·C R Scriver, C L Clow
Jul 1, 1990·The Journal of Clinical Investigation·G N Thompson, D Halliday
Mar 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·S Kaufman
Aug 1, 1978·Neurochemical Research·J V Hughes, T C Johnson
Aug 27, 2013·The Journal of Medicine and Philosophy·Halley S Faust
Feb 1, 1976·Kidney International·C R ScriverR R McInnes
Sep 22, 2007·Molecular Genetics and Metabolism·Yoshiyuki OkanoTsunekazu Yamano
Sep 1, 1988·The Journal of Pediatrics·F D LedleyS L Woo
Sep 1, 1992·Genomics·E Economou-PetersenF Güttler
Oct 1, 1980·Journal of Neurochemistry·J C NixonK Bartholomé
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