(Q28142580)

English

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

scientific article (publication date: 1999)

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scholarly article

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Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia (English)

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hyperphenylalaninemia

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based on heuristic

inferred from title

author name string

T Scherer-Oppliger

1

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A Matasovic

2

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S Laufs

3

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H L Levy

4

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E J Quackenbush

5

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N Blau

6

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B Thöny

7

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language of work or name

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publication date

1999

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13

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4

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286-9

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International database of tetrahydrobiopterin deficiencies

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A4%3C286%3A%3AAID-HUMU4%3E3.0.CO%3B2-C

21 January 2018

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A4%3C286%3A%3AAID-HUMU4%3E3.0.CO%3B2-C

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A4%3C286%3A%3AAID-HUMU4%3E3.0.CO%3B2-C

21 January 2018

Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A4%3C286%3A%3AAID-HUMU4%3E3.0.CO%3B2-C

21 January 2018

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A4%3C286%3A%3AAID-HUMU4%3E3.0.CO%3B2-C

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A4%3C286%3A%3AAID-HUMU4%3E3.0.CO%3B2-C

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A4%3C286%3A%3AAID-HUMU4%3E3.0.CO%3B2-C

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A4%3C286%3A%3AAID-HUMU4%3E3.0.CO%3B2-C

21 January 2018

A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281999%2913%3A4%3C286%3A%3AAID-HUMU4%3E3.0.CO%3B2-C

21 January 2018

Identifiers

10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C

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