(Q46171366)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19130291%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19130291%20AND%20SRC:MED&resulttype=core&format=json

sepiapterin reductase deficiency

19 January 2020

main subject

0 references

author

Nenad Blau

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19130291%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Dariusz Rokicki

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19130291%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Ewa Pronicka

11

1 reference

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19 January 2020

Jolanta Sykut-Cegielska

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19130291%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

K Kusmierska

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19130291%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

E E W Jansen

2

1 reference

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19 January 2020

C Jakobs

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19130291%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

K Szymanska

4

1 reference

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19 January 2020

E Malunowicz

5

1 reference

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19 January 2020

D Meilei

6

1 reference

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19 January 2020

B Thony

7

1 reference

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19 January 2020

J Tryfon

9

1 reference

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19 January 2020

publication date

7 January 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19130291%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

19 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19130291%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

32 Suppl 1

1 reference

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19 January 2020

page(s)

S5-10

1 reference

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Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

Neurochemistry and defects of biogenic amine neurotransmitter metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

Pediatric neurotransmitter diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

Inborn errors of neurotransmitter receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

Two Greek siblings with sepiapterin reductase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

Estimation of tetrahydrobiopterin and other pterins in cerebrospinal fluid using reversed-phase high-performance liquid chromatography with electrochemical and fluorescence detection

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10545-008-1009-4

21 January 2018

12 December 2020

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

1 reference

12 December 2020

Diagnosis and treatment of neurotransmitter disorders

1 reference

12 December 2020

Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency

1 reference

12 December 2020

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

1 reference

12 December 2020