Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 20

1.

A new cofactor required for the enzymatic conversion of phenylalanine to tyrosine.

KAUFMAN S.

J Biol Chem. 1958 Feb;230(2):931-9. No abstract available.

2.

A comprehensive set of sequence analysis programs for the VAX.

Devereux J, Haeberli P, Smithies O.

Nucleic Acids Res. 1984 Jan 11;12(1 Pt 1):387-95.

3.

Purification and characterization of phenylalanine hydroxylase-stimulating protein from rat liver.

Huang CY, Max EE, Kaufman S.

J Biol Chem. 1973 Jun 25;248(12):4235-41. No abstract available.

5.

Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.

Curtius HC, Kuster T, Matasovic A, Blau N, Dhondt JL.

Biochem Biophys Res Commun. 1988 Jun 16;153(2):715-21.

PMID:
3382399
6.

Mendelian hyperphenylalaninemia.

Scriver CR, Kaufman S, Woo SL.

Annu Rev Genet. 1988;22:301-21. Review. No abstract available.

PMID:
3071251
7.

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

DiLella AG, Marvit J, Lidsky AS, G├╝ttler F, Woo SL.

Nature. 1986 Aug 28-Sep 3;322(6082):799-803.

PMID:
3018584
8.

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

DiLella AG, Marvit J, Brayton K, Woo SL.

Nature. 1987 May 28-Jun 3;327(6120):333-6.

PMID:
2884570
9.
10.

7-Substituted pterins: formation during phenylalanine hydroxylation in the absence of dehydratase.

Curtius HC, Adler C, Rebrin I, Heizmann C, Ghisla S.

Biochem Biophys Res Commun. 1990 Nov 15;172(3):1060-6.

PMID:
2244891
11.

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

Howells DW, Forrest SM, Dahl HH, Cotton RG.

Am J Hum Genet. 1990 Aug;47(2):279-85.

12.
13.

Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.

Davis MD, Kaufman S, Milstien S.

Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):385-9.

14.

Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein.

Mendel DB, Khavari PA, Conley PB, Graves MK, Hansen LP, Admon A, Crabtree GR.

Science. 1991 Dec 20;254(5039):1762-7.

PMID:
1763325
15.

Identity of 4a-carbinolamine dehydratase, a component of the phenylalanine hydroxylation system, and DCoH, a transregulator of homeodomain proteins.

Citron BA, Davis MD, Milstien S, Gutierrez J, Mendel DB, Crabtree GR, Kaufman S.

Proc Natl Acad Sci U S A. 1992 Dec 15;89(24):11891-4.

16.

Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.

Blau N, Kierat L, Curtius HC, Blaskovics M, Giudici T.

J Inherit Metab Dis. 1992;15(3):409-12. No abstract available.

PMID:
1405481
17.

Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.

Adler C, Ghisla S, Rebrin I, Heizmann CW, Blau N, Curtius HC.

J Inherit Metab Dis. 1992;15(3):405-8. No abstract available.

PMID:
1405480
18.
19.

DNA sequencing with chain-terminating inhibitors.

Sanger F, Nicklen S, Coulson AR.

Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7.

Items per page

Supplemental Content

Support Center