(Q24670476)

2

0 references

S Milstien

3

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E W Naylor

4

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C L Greene

5

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M D Davis

American Journal of Human Genetics

6

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language of work or name

English

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publication date

September 1993

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published in

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volume

53

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page(s)

768-74

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issue

3

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cites work

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

1 reference

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DNA sequencing with chain-terminating inhibitors

7 April 2017

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A comprehensive set of sequence analysis programs for the VAX

7 April 2017

1 reference

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Characterization of a Cofactor That Regulates Dimerization of a Mammalian Homeodomain Protein

7 April 2017

1 reference

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Studies on the phenylalanine hydroxylase system in vivo. An in vivo assay based on the liberation of deuterium or tritium into the body water from ring-labeled L-phenylalanine

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Mendelian hyperphenylalaninemia

28 September 2017

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Tetrahydrobiopterin, the cofactor for aromatic amino acid hydroxylases, is synthesized by and regulates proliferation of erythroid cells

28 September 2017

1 reference

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

28 September 2017

1 reference

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"7-tetrahydrobiopterin," a naturally occurring analogue of tetrahydrobiopterin, is a cofactor for and a potential inhibitor of the aromatic amino acid hydroxylases

28 September 2017

1 reference

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Purification and Characterization of Phenylalanine Hydroxylase-stimulating Protein from Rat Liver

28 September 2017

1 reference

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Studies on the mechanisms of action of phenylalanine hydroxylase and its protein stimulator. I. Enzyme concentration dependence of the specific activity of phenylalanine hydroxylase due to a nonenzymatic step

30 May 2018

1 reference

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

30 May 2018

1 reference

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

30 May 2018

1 reference

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

30 May 2018

1 reference

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

28 November 2018

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12 December 2020

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

1 reference

12 December 2020

7-Tetrahydrobiopterin is an uncoupled cofactor for rat hepatic phenylalanine hydroxylase

1 reference

12 December 2020

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

1 reference

12 December 2020