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

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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

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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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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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Maria Luz Couce Pico

18

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René Santer

19

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6 August 2017

Hanna Mandel

21

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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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Jessica Endig

27

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Jens Jordan

28

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Patrick McKiernan

29

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Stefanie Ernst

30

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6 August 2017

Susanne Morlot

31

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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

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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

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

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

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

21 January 2018

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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

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

21 January 2018

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

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

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21 January 2018

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

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Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1

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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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone

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12 December 2020

Indications and outcome of liver transplantation in tyrosinaemia type 1

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12 December 2020

10.1186/S13023-014-0107-7

Identifiers

DOI

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Dimensions Publication ID

6 August 2017

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6 August 2017

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