(Q35141048)

6 August 2017

title

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice (English)

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6 August 2017

20

Sabine Scholl-Bürgi

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6 August 2017

Hélène Ogier de Baulny

5

object named as

Hélène Ogier de Baulny

1 reference

6 August 2017

Michaela Brunner-Krainz

15

object named as

Michaela Brunner-Krainz

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6 August 2017

Matthias Gautschi

26

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Carlo Dionisi-Vici

object named as

Carlo Dionisi-Vici

13

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author name string

Sebene Mayorandan

1

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6 August 2017

Uta Meyer

2

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6 August 2017

Gülden Gokcay

3

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6 August 2017

Nuria Garcia Segarra

4

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6 August 2017

Francjan van Spronsen

6

1 reference

6 August 2017

Jiri Zeman

7

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6 August 2017

Jiri Zeman

8

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6 August 2017

Corinne de Laet

9

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6 August 2017

Ute Spiekerkoetter

10

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6 August 2017

Eva Thimm

11

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6 August 2017

Arianna Maiorana

12

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6 August 2017

Dorothea Moeslinger

14

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6 August 2017

Amelie Sophia Lotz-Havla

16

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6 August 2017

José Angel Cocho de Juan

17

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6 August 2017

Maria Luz Couce Pico

18

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6 August 2017

René Santer

19

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6 August 2017

Hanna Mandel

21

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6 August 2017

Yngve Thomas Bliksrud

22

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6 August 2017

Peter Freisinger

23

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6 August 2017

Luis Jose Aldamiz-Echevarria

24

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6 August 2017

Michel Hochuli

25

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6 August 2017

Jessica Endig

27

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6 August 2017

Jens Jordan

28

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6 August 2017

Patrick McKiernan

29

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6 August 2017

Stefanie Ernst

30

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6 August 2017

Susanne Morlot

31

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6 August 2017

Arndt Vogel

32

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6 August 2017

Johannes Sander

33

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6 August 2017

Anibh Martin Das

34

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6 August 2017

publication date

1 August 2014

1 reference

Orphanet Journal of Rare Diseases

6 August 2017

published in

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6 August 2017

volume

9

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6 August 2017

page(s)

107

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Creative Commons Attribution 4.0 International

6 August 2017

copyright license

start time

1 August 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy

1 reference

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Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease

13 July 2018

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Development of clinical guidelines for inborn errors of metabolism: commentary.

13 July 2018

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Recommendations for the management of tyrosinaemia type 1

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347563

Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong

13 July 2018

1 reference

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347563

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

13 July 2018

1 reference

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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

13 July 2018

1 reference

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

13 July 2018

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Self-induced correction of the genetic defect in tyrosinemia type I

13 July 2018

1 reference

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Serum alpha fetoprotein (AFP) levels in normal infants

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347563

Serum alpha-fetoprotein levels in normal infants: a reappraisal of regression analysis and sex difference

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347563

On the enzymic defects in hereditary tyrosinemia

13 July 2018

1 reference

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The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

13 July 2018

1 reference

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

13 July 2018

1 reference

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

21 January 2018

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Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone

21 January 2018

1 reference

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Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0107-7

Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.

21 January 2018

1 reference

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Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

21 January 2018

1 reference

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Serum α-Fetoprotein Levels in Normal Infants

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0107-7

Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0107-7

Hepatic stress in hereditary tyrosinemia type 1 (HT1) activates the AKT survival pathway in the fah-/- knockout mice model

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0107-7

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

21 January 2018

1 reference

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Corneal opacities associated with NTBC treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0107-7

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%2FS13023-014-0107-7

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%2FS13023-014-0107-7

Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0107-7

Renal function in tyrosinaemia type I after liver transplantation: a long-term follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0107-7

Renal tubular function in children with tyrosinaemia type I treated with nitisinone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0107-7

Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I.

21 January 2018

1 reference

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Cardiomyopathy in tyrosinaemia type I is common but usually benign.

21 January 2018

1 reference

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Behavioral and intellectual functioning in patients with tyrosinemia type I.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347563

Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347563

Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347563

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4347563

Neonatal screen for hereditary tyrosinaemia type I

27 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Single dose NTBC-treatment of hereditary tyrosinemia type I

1 reference

12 December 2020

Type I hereditary tyrosinaemia: presentation of 11 cases

1 reference

12 December 2020

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

1 reference

12 December 2020

Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment

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

Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1

1 reference

12 December 2020

Clinical trials: curing a critical deficiency in metabolic medicine

1 reference

12 December 2020

Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program

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

Comparison of plasma and dry blood spots as samples for the determination of nitisinone (NTBC) by high-performance liquid chromatography-tandem mass spectrometry. Study of the stability of the samples at different temperatures

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

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries

1 reference

12 December 2020

Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC)

1 reference

12 December 2020

Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone

1 reference

12 December 2020

Indications and outcome of liver transplantation in tyrosinaemia type 1

1 reference

12 December 2020

10.1186/S13023-014-0107-7

Identifiers

DOI

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

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