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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
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    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
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    Chapter 17 The Québec NTBC Study
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    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 2: Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
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Chapter title
Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
Chapter number 2
Book title
Hereditary Tyrosinemia
Published in
Advances in experimental medicine and biology, January 2017
DOI 10.1007/978-3-319-55780-9_2
Pubmed ID
Book ISBNs
978-3-31-955779-3, 978-3-31-955780-9
Authors

Geneviève Morrow, Robert M. Tanguay

Abstract

Inborn errors of metabolism (IEMs) are a group of diseases involving a genetic defect that alters a metabolic pathway and that presents usually during infancy. The tyrosine degradation pathway contains five enzymes, four of which being associated with IEMs. The most severe metabolic disorder associated with this catabolic pathway is hereditary tyrosinemia type 1 (HT1; OMIM 276700). HT1 is an autosomal recessive disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway. Although a rare disease worldwide, HT1 shows higher incidence in certain populations due to founder effects. The acute form of the disease is characterized by an early onset and severe liver failure while the chronic form appears later and also involves renal dysfunctions. Until 1992 the only treatment for this disease was liver transplantation. Since then, NTBC/Nitisone (a drug blocking the pathway upstream of FAH) is successfully used in combination with a diet low in tyrosine and phenylalanine, but patients are still at risk of developing hepatocellular carcinoma. This chapter summarizes the biochemical and clinical features of HT1.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters 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 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 4 25%
Student > Master 3 19%
Other 2 13%
Student > Doctoral Student 1 6%
Researcher 1 6%
Other 1 6%
Unknown 4 25%
Readers by discipline Count As %
Pharmacology, Toxicology and Pharmaceutical Science 4 25%
Medicine and Dentistry 4 25%
Biochemistry, Genetics and Molecular Biology 2 13%
Agricultural and Biological Sciences 1 6%
Nursing and Health Professions 1 6%
Other 0 0%
Unknown 4 25%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 03 August 2017.
All research outputs
#6,844,072
of 11,563,317 outputs
Outputs from Advances in experimental medicine and biology
#1,192
of 3,081 outputs
Outputs of similar age
#137,520
of 265,069 outputs
Outputs of similar age from Advances in experimental medicine and biology
#2
of 3 outputs
Altmetric has tracked 11,563,317 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,081 research outputs from this source. They receive a mean Attention Score of 3.4. This one has gotten more attention than average, scoring higher than 60% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 265,069 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 3 others from the same source and published within six weeks on either side of this one.