(Q44697457)

5 December 2017

title

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

1 reference

5 December 2017

main subject

hyperphenylalaninemia

1 reference

Haruo Shintaku

1

1 reference

5 December 2017

Shigeo Kure

2

1 reference

5 December 2017

Toshihiro Ohura

3

1 reference

5 December 2017

Yoshiyuki Okano

4

1 reference

5 December 2017

Misao Ohwada

5

1 reference

5 December 2017

Naruji Sugiyama

6

1 reference

5 December 2017

Nobuo Sakura

7

1 reference

5 December 2017

Ichiro Yoshida

8

1 reference

5 December 2017

Makoto Yoshino

9

1 reference

5 December 2017

Yoichi Matsubara

10

1 reference

5 December 2017

Ken Suzuki

11

1 reference

5 December 2017

Kikumaro Aoki

12

1 reference

5 December 2017

Teruo Kitagawa

13

1 reference

5 December 2017

language of work or name

English

0 references

publication date

17 December 2003

1 reference

5 December 2017

1 reference

5 December 2017

volume

55

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5 December 2017

issue

3

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5 December 2017

page(s)

425-430

1 reference

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings

5 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

Successful treatment of phenylketonuria with tetrahydrobiopterin

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

Molecular characterization of phenylketonuria in Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000111283.91564.7E

10.1203/01.PDR.0000111283.91564.7E

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

5 December 2017

1041910046

0 references

Fatcat ID

release_eaknemquazbgdin3zsaigbqwci

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/eaknemquazbgdin3zsaigbqwci

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference