Literature DB >> 15702412

Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I.

N André1, B Roquelaure, V Jubin, C Ovaert.   

Abstract

We report the case of a child who developed severe obstructive hypertrophic cardiomyopathy revealing hereditary tyrosinaemia type I, who was successfully treated with NTBC. The mechanisms underlying the association are discussed.

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Year:  2005        PMID： 15702412     DOI： 10.1007/s10545-005-5085-4

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

1.  Changes of myocardial functions in acute hepatic porphyrias. Role of heme arginate administration.

Authors:  V Kordac; M Kozáková; P Martásek
Journal:  Ann Med       Date:  1989-08       Impact factor: 4.709

2.  Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy.

Authors:  M A Edwards; A Green; A Colli; G Rylance
Journal:  Lancet       Date:  1987-06-20       Impact factor: 79.321

3.  Indications and outcome of liver transplantation in tyrosinaemia type 1.

Authors:  N Mohan; P McKiernan; M A Preece; A Green; J Buckels; A D Mayer; D A Kelly
Journal:  Eur J Pediatr       Date:  1999-12       Impact factor: 3.183

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

Authors:  E Holme; S Lindstedt
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

5.  Damage to rat liver mitochondria promoted by delta-aminolevulinic acid-generated reactive oxygen species: connections with acute intermittent porphyria and lead-poisoning.

Authors:  M Hermes-Lima; V G Valle; A E Vercesi; E J Bechara
Journal:  Biochim Biophys Acta       Date:  1991-01-03

6.  Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia.

Authors:  R Berger; H van Faassen; G P Smith
Journal:  Clin Chim Acta       Date:  1983-10-31       Impact factor: 3.786

7.  Hemodynamic effects of 5-aminolevulinic acid in humans.

Authors:  M A Herman; J Webber; D Fromm; D Kessel
Journal:  J Photochem Photobiol B       Date:  1998-04       Impact factor: 6.252
  7 in total
  5 in total

Review 1.  [Severe osteoarthritic manifestations of ochronosis].

Authors:  U Lange; U Müller-Ladner; G Dischereit
Journal:  Z Rheumatol       Date:  2014-06       Impact factor: 1.372

2.  Cardiomyopathy in tyrosinaemia type I is common but usually benign.

Authors:  N Arora; O Stumper; J Wright; D A Kelly; P J McKiernan
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

3.  Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

Authors:  Sarar Mohamed; Mohammed A Kambal; Nasir A Al Jurayyan; Abdulrahman Al-Nemri; Amir Babiker; Rana Hasanato; Abdullah S Al-Jarallah
Journal:  BMC Res Notes       Date:  2013-09-09

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

Authors:  Sebene Mayorandan; Uta Meyer; Gülden Gokcay; Nuria Garcia Segarra; Hélène Ogier de Baulny; Francjan van Spronsen; Jiri Zeman; Corinne de Laet; Ute Spiekerkoetter; Eva Thimm; Arianna Maiorana; Carlo Dionisi-Vici; Dorothea Moeslinger; Michaela Brunner-Krainz; Amelie Sophia Lotz-Havla; José Angel Cocho de Juan; Maria Luz Couce Pico; René Santer; Sabine Scholl-Bürgi; Hanna Mandel; Yngve Thomas Bliksrud; Peter Freisinger; Luis Jose Aldamiz-Echevarria; Michel Hochuli; Matthias Gautschi; Jessica Endig; Jens Jordan; Patrick McKiernan; Stefanie Ernst; Susanne Morlot; Arndt Vogel; Johannes Sander; Anibh Martin Das
Journal:  Orphanet J Rare Dis       Date:  2014-08-01       Impact factor: 4.123

Review 5.  Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Authors:  Jeffrey M Chinsky; Rani Singh; Can Ficicioglu; Clara D M van Karnebeek; Markus Grompe; Grant Mitchell; Susan E Waisbren; Muge Gucsavas-Calikoglu; Melissa P Wasserstein; Katie Coakley; C Ronald Scott
Journal:  Genet Med       Date:  2017-08-03       Impact factor: 8.822
  5 in total

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