(Q77929892)

English

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency

scientific article published on 01 May 1999

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Steven Sparagana

6

object named as

S P Sparagana

2 references

ORCID Public Data File 2021

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Kathryn J Swoboda

4

object named as

K J Swoboda

2 references

ORCID Public Data File 2021

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

K Hyland

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

T G Nygaard

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

J M Trugman

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

L A Arnold

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 May 1999

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

22

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

213-215

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10384370%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

https://scigraph.springernature.com/pub.10.1023/a:1005532610051

0 references

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolism of the phenylalanine hydroxylation cofactor

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary progressive dystonia with marked diurnal fluctuation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10384370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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