(Q26851571)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

review article

1 reference

title

Recommendations for the management of tyrosinaemia type 1 (English)

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

3 references

24 March 2019

22 April 2019

25 April 2019

1 reference

ChEBI release 2020-05-28

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Guillem Pintos-Morell

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Corinne de Laet

1

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

James V Leonard

3

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Patrick McKiernan

4

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Grant Mitchell

5

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Lidia Monti

6

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Ute Spiekerkötter

9

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Hélène Ogier de Baulny

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

1 reference

11 January 2013

5 references

24 March 2019

22 April 2019

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

22 February 2020

published in

5 references

24 March 2019

22 April 2019

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

8

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

8

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 2.0 Generic

22 February 2020

copyright license

3 references

24 March 2019

22 April 2019

on focus list of Wikimedia project

25 April 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Pharmacokinetics and pharmacodynamics of NTBC (2-(2-nitro-4-fluoromethylbenzoyl)-1,3-cyclohexanedione) and mesotrione, inhibitors of 4-hydroxyphenyl pyruvate dioxygenase (HPPD) following a single dose to healthy male volunteers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experience

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Case Presentation). Diagnosis: Hereditary tyrosinaemia type I presenting as E. coli septicaemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Clinical practice. NTBC therapy for tyrosinemia type 1: how much is enough?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Focal liver lesion detection and characterization with diffusion-weighted MR imaging: comparison with standard breath-hold T2-weighted imaging

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Hyperinsulinism in tyrosinaemia type I.

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Cardiomyopathy in tyrosinaemia type I is common but usually benign.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Evidence for Liver Disease Preceding Amino Acid Abnormalities in Hereditary Tyrosinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Improved focal liver lesion detection: comparison of single-shot diffusion-weighted echoplanar and single-shot T2 weighted turbo spin echo techniques.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

NTBC treatment in tyrosinaemia type I: long-term outcome in French patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Tyrosinemia produced by 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione (NTBC) in experimental animals and its relationship to corneal injury.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-8

Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3558375

Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?

28 November 2018

1 reference

12 December 2020

Single dose NTBC-treatment of hereditary tyrosinemia type I

1 reference

12 December 2020

Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome

1 reference

12 December 2020

Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines

1 reference

12 December 2020

Tyrosinemia type I: long-term outcome in a patient treated with doses of NTBC lower than recommended

1 reference

12 December 2020

[Recommendations and management of type I hereditary or hepatorenal tyrosinemia]

1 reference

12 December 2020

Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1

1 reference

12 December 2020

Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma

1 reference

12 December 2020

LC-MS/MS method for simultaneous determination on a dried blood spot of multiple analytes relevant for treatment monitoring in patients with tyrosinemia type I

1 reference

12 December 2020

Newborn screening for Tyr-I: two years' experience of the New York State program

1 reference

12 December 2020

Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-8

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 February 2020

1003508528

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

23311542

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23311542%20AND%20SRC:MED&resulttype=core&format=json