(Q73482723)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

P DE Lonlay

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M C Nassogne

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

A H van Gennip

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

A C van Cruchten

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

T Billatte de Villemeur

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Cretz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C Stoll

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

J M Launay

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

G C Steenberger-Spante

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

L P van den Heuvel

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

J M Saudubray

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

N G Abeling

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 December 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

819-825

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196107%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1026760602577

4 November 2019

exact match

0 references

cites work

Simultaneous determination of acidic 3,4-dihydroxyphenylalanine metabolites and 5-hydroxyindole-3-acetic acid in urine by high-performance liquid chromatography

1 reference

12 December 2020

Biochemical hallmarks of tyrosine hydroxylase deficiency.

1 reference

12 December 2020

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency

1 reference

12 December 2020

Concentration gradients of monoamine metabolites in human cerebrospinal fluid

1 reference

12 December 2020

Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorometric detection

1 reference

12 December 2020

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology

1 reference

12 December 2020

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

1 reference

12 December 2020

Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings

1 reference

12 December 2020

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis

1 reference

12 December 2020

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene

1 reference

12 December 2020

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

1 reference

12 December 2020