(Q28243574)

2

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C Kluge

3

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A Matasovic

4

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C W Heizmann

5

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A Ponzone

6

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M Spada

7

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N Blau

International database of tetrahydrobiopterin deficiencies

8

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language of work or name

English

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publication date

1997

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published in

Human Mutation

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volume

10

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issue

1

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page(s)

25-35

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A1%3C25%3A%3AAID-HUMU4%3E3.0.CO%3B2-L

Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity

21 January 2018

1 reference

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6-Pyruvoyl tetrahydropterin synthase, an enzyme with a novel type of active site involving both zinc binding and an intersubunit catalytic triad motif; site-directed mutagenesis of the proposed active center, characterization of the metal binding si

21 January 2018

1 reference

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Tetrahydrobiopterin biosynthesis. Studies with specifically labeled (2H)NAD(P)H and 2H2O and of the enzymes involved

21 January 2018

1 reference

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Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase

21 January 2018

1 reference

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

1 reference

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Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency

21 January 2018

1 reference

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Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver

21 January 2018

1 reference

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"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.

21 January 2018

1 reference

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Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes

21 January 2018

1 reference

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Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme

21 January 2018

1 reference

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Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22

21 January 2018

1 reference

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Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients

21 January 2018

1 reference

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Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans

21 January 2018

1 reference

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Differential diagnosis of tetrahydrobiopterin deficiency

21 January 2018

1 reference

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Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype

21 January 2018

1 reference

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Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

21 January 2018

1 reference

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Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency

21 January 2018

1 reference

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Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A1%3C25%3A%3AAID-HUMU4%3E3.0.CO%3B2-L