(Q69868505)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

title

Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

main subject

hyperphenylalaninemia

1 reference

J L Dhondt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

J P Farriaux

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

A Boudha

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

C Largillière

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

J Ringel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

M M Roger

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

R J Leeming

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

language of work or name

English

0 references

publication date

1 June 1985

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

6 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

volume

106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

page(s)

954-956

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey

6 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980251-1

Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980251-1

Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980251-1

Hepatic phenylalanine hydroxylase activity in hyperphenylalaninaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980251-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980251-1

Current status of biopterin screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980251-1

Guanosine triphosphate cyclohydrolase activity in rat tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980251-1

[Neopterin, a new biochemical marker for clinical assessment of cell-mediated immune response]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2885%2980251-1

10.1016/S0022-3476(85)80251-1

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3873535%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

1 reference