(Q38033938)

27 August 2017

title

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

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27 August 2017

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ChEBI release 2020-05-28

24

Charles Scriver

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27 August 2017

John Mitchell

18

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Jean-François Bussières

3

object named as

Jean-François Bussières

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27 August 2017

5

Louis Dallaire

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Serge Melançon

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Paul Goodyer

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27 August 2017

Jean Larochelle

1

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Fernando Alvarez

2

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Isabelle Chevalier

4

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Josée Dubois

6

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Frédéric Faucher

7

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Daphna Fenyves

8

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27 August 2017

André Grenier

10

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Elisabeth Holme

11

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Rachel Laframboise

12

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27 August 2017

Marie Lambert

13

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Sven Lindstedt

14

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Bruno Maranda

15

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Aicha Merouani

17

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Guy Parizeault

19

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Luc Pelletier

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Véronique Phan

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27 August 2017

Piero Rinaldo

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C Ronald Scott

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Grant A Mitchell

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27 August 2017

publication date

13 July 2012

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Molecular Genetics and Metabolism

27 August 2017

published in

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27 August 2017

volume

107

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27 August 2017

issue

1-2

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27 August 2017

page(s)

49-54

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

27 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Human genetics: lessons from Quebec populations

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Population history and its impact on medical genetics in Quebec

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Neurologic crises in hereditary tyrosinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Tissue distribution of 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1-3-dione (NTBC): effect on enzymes involved in tyrosine catabolism and relevance to ocular toxicity in the rat

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Nontransplant treatment of tyrosinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Fumarylacetoacetase mutations in tyrosinaemia type I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Newborn screening: toward a uniform screening panel and system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

Liver repopulation for the treatment of metabolic diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.022

10.1016/J.YMGME.2012.05.022

7 January 2021

Identifiers

DOI

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27 August 2017

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