(Q78254430)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

title

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

author name string

S Kure

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

D C Hou

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

T Ohura

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

H Iwamoto

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

S Suzuki

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

N Sugiyama

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

O Sakamoto

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

K Fujii

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

Y Matsubara

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

K Narisawa

10

1 reference

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13 December 2019

language of work or name

English

0 references

publication date

1 September 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

13 December 2019

published in

1 reference

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13 December 2019

volume

135

1 reference

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13 December 2019

issue

3

1 reference

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13 December 2019

page(s)

375-378

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

Diagnosis of malignant hyperphenylalaninaemia

13 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970138-1

Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970138-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970138-1

Analysis of reduced forms of biopterin in biological tissues and fluids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970138-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970138-1

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970138-1

Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970138-1

A new theory of enterorecirculation of amino acids and its use for depleting unwanted amino acids using oral enzyme-artificial cells, as in removing phenylalanine in phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970138-1

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970138-1

10.1016/S0022-3476(99)70138-1

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484807%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

1 reference