(Q67674995)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

title

Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

author name string

A Ponzone

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

O Guardamagna

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

G B Ferrero

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

I Dianzani

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

W Endres

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

publication date

1 January 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

16 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

16 September 2019

page(s)

298-300

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1700190%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01799379

16 September 2019

exact match

0 references

cites work

Inborn errors of pterin metabolism

1 reference

12 December 2020

Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver

1 reference

12 December 2020

Phenylalaninaemia. Differential diagnosis

1 reference

12 December 2020

Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers

1 reference

12 December 2020

"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.

1 reference

12 December 2020

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

1 reference

12 December 2020