(Q55670735)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Hiroshi Ichinose

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

T Nagatsu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

C W Heizmann

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

F Zacchello

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

A B Burlina

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 March 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

27 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

401-405

1 reference

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27 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.

27 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

New tetrahydrobiopterin-dependent systems

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

Guanosine triphosphate cyclohydrolase I assay in human and rat liver using high-performance liquid chromatography of neopterin phosphates and guanine nucleotides

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

Inborn errors of pterin metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

Cloning and sequencing of cDNA encoding mouse GTP cyclohydrolase I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

Multiple mRNA forms of human GTP cyclohydrolase I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970458-2

10.1016/S0022-3476(95)70458-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7869202%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference