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Hereditary Tyrosinemia

Overview of attention for book
Cover of 'Hereditary Tyrosinemia'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 1 Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean
  3. Altmetric Badge
    Chapter 2 Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
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    Chapter 3 Molecular Aspects of the FAH Mutations Involved in HT1 Disease
  5. Altmetric Badge
    Chapter 4 Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1
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    Chapter 5 Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine
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    Chapter 6 The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec
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    Chapter 7 Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom
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    Chapter 8 NTBC and Correction of Renal Dysfunction
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    Chapter 9 Liver Cancer in Tyrosinemia Type 1
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    Chapter 10 Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients
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    Chapter 11 Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening
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    Chapter 12 Tyrosinemia Type I in Japan: A Report of Five Cases
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    Chapter 13 Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update
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    Chapter 14 Hepatorenal Tyrosinemia in Mexico: A Call to Action
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    Chapter 15 Hereditary Tyrosinemia Type 1 in Turkey
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    Chapter 16 From Weed Killer to Wonder Drug
  18. Altmetric Badge
    Chapter 17 The Québec NTBC Study
  19. Altmetric Badge
    Chapter 18 Dietary Considerations in Tyrosinemia Type I
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    Chapter 19 Remaining Challenges in the Treatment of Tyrosinemia from the Clinician’s Viewpoint
  21. Altmetric Badge
    Chapter 20 Fah Knockout Animals as Models for Therapeutic Liver Repopulation
  22. Altmetric Badge
    Chapter 21 Gene Therapy in Tyrosinemia: Potential and Pitfalls
Attention for Chapter 13: Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update
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Chapter title
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update
Chapter number 13
Book title
Hereditary Tyrosinemia
Published in
Advances in experimental medicine and biology, January 2017
DOI 10.1007/978-3-319-55780-9_13
Pubmed ID
Book ISBNs
978-3-31-955779-3, 978-3-31-955780-9
Authors

Yves Giguère, Marie-Thérèse Berthier

Abstract

Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency. If untreated, its acute form is characterized by hepatic failure, renal dysfunction and neurological crisis, and may lead to death. Due to a genetic founder effect in the French-Canadian population, the prevalence of HTI is increased in the province of Quebec (1/19 819), with the IVS12 + 5G>A (1062 + 5G>A) splice site mutation responsible for more than 90% of mutated alleles. Universal newborn screening for (HT1) was thus established in 1970, and close to four million infants have been tested so far, allowing to identify 185 of the 190 affected newborns. During the 1970-1997 period, 2,249,000 newborns were screened at 3-7 days of life on dried filter paper blood spots by tyrosine (Tyr) concentration followed by indirect colorimetric semi-quantitative and quantitative (Q) succinylacetone (SA) testing (red blood cells δ-aminolevulinate dehydratase inhibition), with immunoreactive FAH as the confirmatory test. This approach allowed to identify 118 of 123 affected newborns. In 1998, owing to earlier hospital discharge and increased rate of breastfeeding, four cases were missed within the same year as the discriminating power of blood Tyr became inadequate. Thus, the screening algorithm was modified: indirect semi-quantitative SA measurement became the first-tier test between 1998 and 2014, and direct SA measurement by tandem mass spectrometry (MS/MS) was implemented in 2014, followed by indirect quantitative SA measurement as second tier test. Confirmation is performed by plasmatic amino acid profile and molecular testing. During the 1998-2016 period, more than 1,5 million neonates have been tested (90% sampled between 24 and 48 h of life): 67 of the 67 HTI cases were identified. Both indirect and direct SA measurement as the initial HTI screening test proved to be highly sensitive and specific, with positive and negative predicting value of 79% and 100% respectively.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 21%
Researcher 2 14%
Student > Bachelor 1 7%
Student > Ph. D. Student 1 7%
Professor > Associate Professor 1 7%
Other 0 0%
Unknown 6 43%
Readers by discipline Count As %
Medicine and Dentistry 6 43%
Agricultural and Biological Sciences 2 14%
Unknown 6 43%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 December 2017.
All research outputs
#10,864,974
of 12,259,388 outputs
Outputs from Advances in experimental medicine and biology
#2,298
of 3,184 outputs
Outputs of similar age
#226,768
of 268,158 outputs
Outputs of similar age from Advances in experimental medicine and biology
#2
of 3 outputs
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