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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 15: Hereditary Tyrosinemia Type 1 in Turkey
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Chapter title
Hereditary Tyrosinemia Type 1 in Turkey
Chapter number 15
Book title
Hereditary Tyrosinemia
Published in
Advances in experimental medicine and biology, January 2017
DOI 10.1007/978-3-319-55780-9_15
Pubmed ID
Book ISBNs
978-3-31-955779-3, 978-3-31-955780-9
Authors

Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M. Serif Cansever

Abstract

Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism. Currently, the treatment in HT1 consists of two principles: inhibition of the formation of toxic metabolites by nitisinone [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione; NTBC] and reduction of tyrosine levels by dietary treatment. In this chapter besides presenting the data for 42 patients that had been followed up by Pediatric Metabolic Diseases and Nutrition Unit, Cerrahpasa Medical Faculty, Istanbul University, we also evaluated the data abstracted from the previously published case studies in order to better understand the disease course and gain further insight in the current diagnosis and treatment for HT1 in Turkey.

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 %
Researcher 4 29%
Student > Master 2 14%
Student > Ph. D. Student 1 7%
Student > Bachelor 1 7%
Other 1 7%
Other 2 14%
Unknown 3 21%
Readers by discipline Count As %
Medicine and Dentistry 6 43%
Biochemistry, Genetics and Molecular Biology 2 14%
Nursing and Health Professions 1 7%
Chemistry 1 7%
Unspecified 1 7%
Other 0 0%
Unknown 3 21%

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 30 July 2017.
All research outputs
#9,231,571
of 11,536,085 outputs
Outputs from Advances in experimental medicine and biology
#1,788
of 3,081 outputs
Outputs of similar age
#193,097
of 263,286 outputs
Outputs of similar age from Advances in experimental medicine and biology
#2
of 3 outputs
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