(Q38004367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22522443%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22522443%20AND%20SRC:MED&resulttype=core&format=json

sepiapterin reductase deficiency

29 January 2020

main subject

0 references

author

Dimitrios I. Zafeiriou

12

1 reference

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29 January 2020

Jolanta Sykut-Cegielska

26

1 reference

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29 January 2020

Nenad Blau

29

1 reference

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29 January 2020

21

Marina A J Tijssen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22522443%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

16

Bernard Echenne

1 reference

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29 January 2020

author name string

Jennifer Friedman

1

1 reference

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29 January 2020

Emmanuel Roze

2

1 reference

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29 January 2020

Jose E Abdenur

3

1 reference

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29 January 2020

Richard Chang

4

1 reference

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29 January 2020

Serena Gasperini

5

1 reference

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29 January 2020

Veronica Saletti

6

1 reference

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29 January 2020

Gurusidheshwar M Wali

7

1 reference

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29 January 2020

Hernan Eiroa

8

1 reference

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29 January 2020

Brian Neville

9

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29 January 2020

Alex Felice

10

1 reference

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29 January 2020

Ray Parascandalo

11

1 reference

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29 January 2020

Luisa Arrabal-Fernandez

13

1 reference

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29 January 2020

Patricia Dill

14

1 reference

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29 January 2020

Florian S Eichler

15

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29 January 2020

Luis G Gutierrez-Solana

17

1 reference

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29 January 2020

Georg F Hoffmann

18

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29 January 2020

Keith Hyland

19

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29 January 2020

Katarzyna Kusmierska

20

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29 January 2020

Thomas Lutz

22

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29 January 2020

Michel Mazzuca

23

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29 January 2020

Johann Penzien

24

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29 January 2020

Bwee Tien Poll-The

25

1 reference

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29 January 2020

Krystyna Szymanska

27

1 reference

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29 January 2020

Beat Thöny

28

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29 January 2020

publication date

1 April 2012

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29 January 2020

1 reference

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29 January 2020

volume

71

1 reference

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29 January 2020

issue

4

1 reference

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29 January 2020

page(s)

520-530

1 reference

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The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

29 January 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization

21 January 2018

1 reference

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

21 January 2018

1 reference

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

21 January 2018

1 reference

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.

21 January 2018

1 reference

Two Greek siblings with sepiapterin reductase deficiency.

21 January 2018

1 reference

Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features

21 January 2018

1 reference

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

21 January 2018

1 reference

Whole-genome sequencing for optimized patient management

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values

21 January 2018

1 reference

Drugs, biogenic amine targets and the developing brain

21 January 2018

1 reference

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

21 January 2018

1 reference

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

21 January 2018

1 reference

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

21 January 2018

1 reference