Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan (Q45889902)

17 December 2017

title

Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan (English)

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17 December 2017

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Yoshiyuki Okano

1

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17 December 2017

Satoshi Kudo

2

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17 December 2017

Yasuaki Nishi

3

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17 December 2017

Tomoko Sakaguchi

4

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17 December 2017

Kazuyoshi Aso

5

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17 December 2017

publication date

10 February 2011

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17 December 2017

Journal of Human Genetics

published in

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17 December 2017

volume

56

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17 December 2017

issue

4

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17 December 2017

page(s)

306-312

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17 December 2017

https://scigraph.springernature.com/pub.10.1038/jhg.2011.10

exact match

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cites work

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Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

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Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria

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Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene

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Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin

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Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria

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Molecular characterization of phenylketonuria in Japanese patients

21 January 2018

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7 January 2021

Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China

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7 January 2021

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis

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7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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7 January 2021

Rapid detection of phenylketonuria mutations by non-radioactive single-strand conformation polymorphism analysis

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7 January 2021

DHPLC mutation analysis of phenylketonuria

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7 January 2021

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

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https://api.crossref.org/works/10.1038%2FJHG.2011.10

7 January 2021

Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C)

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.10

7 January 2021

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.10

7 January 2021

Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.10

7 January 2021

Identifiers

DOI

10.1038/JHG.2011.10

1 reference

17 December 2017

Dimensions Publication ID

0 references

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17 December 2017