228 related articles for article (PubMed ID: 496890)
1. Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.
Choo KH; Cotton RG; Danks DM; Jennings IG
Biochem J; 1979 Aug; 181(2):285-94. PubMed ID: 496890
[TBL] [Abstract][Full Text] [Related]
2. Observations indicating the nature of the mutation in phenylketonuria.
Choo KH; Cotton RG; Jennings IG; Danks DM
J Inherit Metab Dis; 1980; 2(4):79-84. PubMed ID: 6796764
[TBL] [Abstract][Full Text] [Related]
3. [Genetical heterogeneity of phenylketonuria].
Annenkov GA
Vopr Med Khim; 1982; 28(3):62-70. PubMed ID: 7048735
[TBL] [Abstract][Full Text] [Related]
4. [Immunochemical detection and characteristics of the subunit composition of phenylalanine hydroxylase in the brain of man].
Chestkov VV; Laptev AV
Biull Eksp Biol Med; 1988 Jul; 106(7):30-4. PubMed ID: 3401571
[TBL] [Abstract][Full Text] [Related]
5. The isolation and properties of phenylalanine hydroxylase from human liver.
Woo SL; Gillam SS; Woolf LI
Biochem J; 1974 Jun; 139(3):741-9. PubMed ID: 4854919
[TBL] [Abstract][Full Text] [Related]
6. Studies on the molecular defect in phenylketonuria and hyperphenylalaninaemia using antibodies against phenylalanine hydroxylase.
Bartholomé K; Dresel A
J Inherit Metab Dis; 1982; 5(1):7-10. PubMed ID: 6820417
[TBL] [Abstract][Full Text] [Related]
7. Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.
Ledley FD; Koch R; Jew K; Beaudet A; O'Brien WE; Bartos DP; Woo SL
J Pediatr; 1988 Sep; 113(3):463-8. PubMed ID: 2900886
[TBL] [Abstract][Full Text] [Related]
8. Genetics of mammalian phenylalanine hydroxylase system. IV. Evidence of phenylalanine hydroxylase in a cultured human hepatoma cell line.
Choo KH; Cotton RG; Jennings IG; Fowler K; Danks DM
Biochem Genet; 1980 Oct; 18(9-10):955-68. PubMed ID: 7194638
[TBL] [Abstract][Full Text] [Related]
9. Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme.
Waters PI; Hewson AS; Scriver CR; Treacy EP; Martinez A; Knappskog PM; Parniak MA
Biochem Soc Trans; 1997 May; 25(2):362S. PubMed ID: 9191407
[No Abstract] [Full Text] [Related]
10. Genetics and biochemistry of the phenylketonuria-present state.
Bartholomé K
Hum Genet; 1979 Oct; 51(3):241-5. PubMed ID: 511154
[TBL] [Abstract][Full Text] [Related]
11. Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.
Bartholomé K; Lutz P; Bickel H
Pediatr Res; 1975 Dec; 9(12):899-903. PubMed ID: 1196708
[TBL] [Abstract][Full Text] [Related]
12. Hepatic phenylalanine hydroxylase and PKU.
Kaufman S
UCLA Forum Med Sci; 1975; (18):445-58. PubMed ID: 1198718
[TBL] [Abstract][Full Text] [Related]
13. Phenylketonuria due to a deficiency of dihydropteridine reductase.
Kaufman S; Holtzman NA; Milstien S; Butler LJ; Krumholz A
N Engl J Med; 1975 Oct; 293(16):785-90. PubMed ID: 1160969
[TBL] [Abstract][Full Text] [Related]
14. Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.
Zschocke J; Graham CA; Stewart FJ; Carson DJ; Nevin NC
Hum Mutat; 1994; 4(2):114-8. PubMed ID: 7981714
[TBL] [Abstract][Full Text] [Related]
15. Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Bartholomé K; Byrd DJ; Kaufman S; Milstien S
Pediatrics; 1977 May; 59(5):757-61. PubMed ID: 300866
[TBL] [Abstract][Full Text] [Related]
16. Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.
Friedman PA; Fisher DB; Kang ES; Kaufman S
Proc Natl Acad Sci U S A; 1973 Feb; 70(2):552-6. PubMed ID: 4405625
[TBL] [Abstract][Full Text] [Related]
17. Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.
Kaufman S; Berlow S; Summer GK; Milstien S; Schulman JD; Orloff S; Spielberg S; Pueschel S
N Engl J Med; 1978 Sep; 299(13):673-9. PubMed ID: 683251
[TBL] [Abstract][Full Text] [Related]
18. Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia.
Dhondt JL; Farriaux JP
J Inherit Metab Dis; 1981; 4(2):59-60. PubMed ID: 6790847
[TBL] [Abstract][Full Text] [Related]
19. Two apparent molecular weight forms of human and monkey phenylalanine hydroxylase are due to phosphorylation.
Smith SC; Kemp BE; McAdam WJ; Mercer JF; Cotton RG
J Biol Chem; 1984 Sep; 259(18):11284-9. PubMed ID: 6088538
[TBL] [Abstract][Full Text] [Related]
20. [Phenylalanine hydroxylase activity in the livers of patients with phenylketonuria].
Shaposhnikov AM; Skachkov MM
Vopr Med Khim; 1974; 20(6):656-60. PubMed ID: 4450535
[No Abstract] [Full Text] [Related]
[Next] [New Search]
