Literature DB >> 30037889

Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man.

Nigel S Tan1, Ravi R Bajaj1, Chantal Morel1, Sheldon M Singh2.   

Abstract

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Year:  2018        PMID： 30037889      PMCID： PMC6056285          DOI： 10.1503/cmaj.180240

Source DB:  PubMed          Journal:  CMAJ        ISSN： 0820-3946            Impact factor:   8.262


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  11 in total

1.  Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

Authors:  Tohru Yorifuji; Masahiko Kawai; Junko Muroi; Mitsukazu Mamada; Keiji Kurokawa; Yosuke Shigematsu; Satoko Hirano; Nobuo Sakura; Ichiro Yoshida; Tomiko Kuhara; Fumio Endo; Hiroshi Mitsubuchi; Tatsutoshi Nakahata
Journal:  Hum Genet       Date:  2002-07-04       Impact factor: 4.132

2.  Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

Authors:  Marina A Schwab; Sven W Sauer; Jürgen G Okun; Leo G J Nijtmans; Richard J T Rodenburg; Lambert P van den Heuvel; Stefan Dröse; Ulrich Brandt; Georg F Hoffmann; Henk Ter Laak; Stefan Kölker; Jan A M Smeitink
Journal:  Biochem J       Date:  2006-08-15       Impact factor: 3.857

Review 3.  Clinical approach to genetic cardiomyopathy in children.

Authors:  M L Schwartz; G F Cox; A E Lin; M S Korson; A Perez-Atayde; R V Lacro; S E Lipshultz
Journal:  Circulation       Date:  1996-10-15       Impact factor: 29.690

4.  The incidence of inherited metabolic disorders in the West Midlands, UK.

Authors:  S Sanderson; A Green; M A Preece; H Burton
Journal:  Arch Dis Child       Date:  2006-05-11       Impact factor: 3.791

5.  Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

Authors:  Rocío Sánchez-Alcudia; Belén Pérez; Magdalena Ugarte; Lourdes R Desviat
Journal:  Hum Mutat       Date:  2012-04-16       Impact factor: 4.878

6.  Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.

Authors:  Daniela Baumgartner; Sabine Scholl-Bürgi; Jörn Oliver Sass; Wolfgang Sperl; Ulrich Schweigmann; Jörg-Ingolf Stein; Daniela Karall
Journal:  J Pediatr       Date:  2007-02       Impact factor: 4.406

7.  Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.

Authors:  Moniek Riemersma; Mark R Hazebroek; Appolonia T J M Helderman-van den Enden; Gajja S Salomons; Sacha Ferdinandusse; Martijn C G J Brouwers; Liesbeth van der Ploeg; Stephane Heymans; Jan F C Glatz; Arthur van den Wijngaard; Ingrid P C Krapels; Jörgen Bierau; Han G Brunner
Journal:  Eur J Hum Genet       Date:  2017-08-30       Impact factor: 4.246

8.  Cardiomyopathies in propionic aciduria are reversible after liver transplantation.

Authors:  Stéphane Romano; Vassili Valayannopoulos; Guy Touati; Jean-Pierre Jais; Daniel Rabier; Yves de Keyzer; Damien Bonnet; Pascale de Lonlay
Journal:  J Pediatr       Date:  2010-01       Impact factor: 4.406

9.  Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy.

Authors:  Gerald F Cox
Journal:  Prog Pediatr Cardiol       Date:  2007

Review 10.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123
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  2 in total

Review 1.  Cardiac Complications of Propionic and Other Inherited Organic Acidemias.

Authors:  Kyung Chan Park; Steve Krywawych; Eva Richard; Lourdes R Desviat; Pawel Swietach
Journal:  Front Cardiovasc Med       Date:  2020-12-22

Review 2.  Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.

Authors:  Zhaoyang Huang; Jing Ye; Yingxuan Li; Miaomiao Wang; Yuping Wang
Journal:  BMC Med Genomics       Date:  2022-03-16       Impact factor: 3.063
  2 in total

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