Literature DB >> 21784454

Cardiac disease in methylmalonic acidemia.

Carlos E Prada1, Fatma Al Jasmi, Edwin P Kirk, Maxwell Hopp, Owen Jones, Nancy D Leslie, T Andrew Burrow.   

Abstract

Methylmalonic acidemia (MMA) is a heterogeneous disorder, with onset from infancy to adulthood and varying degrees of organ involvement and severity. Cardiac disease is a known lethal complication of other organic acidemias, but has not been associated with MMA. We identified 3 patients with MMA and cardiac disease.
Copyright © 2011 Mosby, Inc. All rights reserved.

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Year:  2011        PMID： 21784454     DOI： 10.1016/j.jpeds.2011.06.005

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  19 in total

1.  The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors:  Stefan Kölker; Vassili Valayannopoulos; Alberto B Burlina; Jolanta Sykut-Cegielska; Frits A Wijburg; Elisa Leão Teles; Jiri Zeman; Carlo Dionisi-Vici; Ivo Barić; Daniela Karall; Jean-Baptiste Arnoux; Paula Avram; Matthias R Baumgartner; Javier Blasco-Alonso; S P Nikolas Boy; Marlene Bøgehus Rasmussen; Peter Burgard; Brigitte Chabrol; Anupam Chakrapani; Kimberly Chapman; Elisenda Cortès I Saladelafont; Maria L Couce; Linda de Meirleir; Dries Dobbelaere; Francesca Furlan; Florian Gleich; Maria Julieta González; Wanda Gradowska; Stephanie Grünewald; Tomas Honzik; Friederike Hörster; Hariklea Ioannou; Anil Jalan; Johannes Häberle; Gisela Haege; Eveline Langereis; Pascale de Lonlay; Diego Martinelli; Shirou Matsumoto; Chris Mühlhausen; Elaine Murphy; Hélène Ogier de Baulny; Carlos Ortez; Consuelo C Pedrón; Guillem Pintos-Morell; Luis Pena-Quintana; Danijela Petković Ramadža; Esmeralda Rodrigues; Sabine Scholl-Bürgi; Etienne Sokal; Marshall L Summar; Nicholas Thompson; Roshni Vara; Inmaculada Vives Pinera; John H Walter; Monique Williams; Allan M Lund; Angeles Garcia-Cazorla; Angeles Garcia Cazorla
Journal:  J Inherit Metab Dis       Date:  2015-04-15       Impact factor: 4.982

2.  Impact of age at onset and newborn screening on outcome in organic acidurias.

Authors:  Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Barić; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda Cortès I Saladelafont; Daniela Karall; Chris Mühlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut-Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2015-12-21       Impact factor: 4.982

3.  Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report.

Authors:  Ammar M H Qadi; Hussam K Hamadah; Abdulraouf M Z Jijeh; Omar M Hijazi; Mohamad S Kabbani
Journal:  J Saudi Heart Assoc       Date:  2014-01-21

Review 4.  Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.

Authors:  Stefan Kölker; Peter Burgard; Sven W Sauer; Jürgen G Okun
Journal:  J Inherit Metab Dis       Date:  2013-03-20       Impact factor: 4.982

5.  A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.

Authors:  Hilary J Vernon; C John Sperati; Joshua D King; Andrea Poretti; Neil R Miller; Jennifer L Sloan; Andrew M Cameron; Donna Myers; Charles P Venditti; David Valle
Journal:  J Inherit Metab Dis       Date:  2014-06-25       Impact factor: 4.982

Review 6.  Infant with cardiomyopathy: When to suspect inborn errors of metabolism?

Authors:  Stephanie L Byers; Can Ficicioglu
Journal:  World J Cardiol       Date:  2014-11-26

7.  Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.

Authors:  Raymond Y Wang; Richard C Chang; Mary E Sowa; Anthony C Chang; Jose E Abdenur
Journal:  World J Pediatr       Date:  2014-01-25       Impact factor: 2.764

Review 8.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

Review 9.  Organic acidurias in adults: late complications and management.

Authors:  Ali Tunç Tuncel; Nikolas Boy; Marina A Morath; Friederike Hörster; Ulrike Mütze; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2018-01-15       Impact factor: 4.982

Review 10.  Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Authors:  Nishitha R Pillai; Bridget M Stroup; Anna Poliner; Linda Rossetti; Brandy Rawls; Brian J Shayota; Claudia Soler-Alfonso; Hari Priya Tunuguntala; John Goss; William Craigen; Fernando Scaglia; V Reid Sutton; Ryan Wallace Himes; Lindsay C Burrage
Journal:  Mol Genet Metab       Date:  2019-11-07       Impact factor: 4.797
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