Literature DB >> 11117437

Early onset of complete heart block in Pearson syndrome.

S Rahman1, J V Leonard.   

Abstract

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Year:  2000        PMID： 11117437     DOI： 10.1023/a:1005611803306

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


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  3 in total

1.  Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

Authors:  M A McShane; S R Hammans; M Sweeney; I J Holt; T J Beattie; E M Brett; A E Harding
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

2.  Indications for pacemaker implantation in the Kearns-Sayre syndrome.

Authors:  P E Polak; F Zijlstra; J R Roelandt
Journal:  Eur Heart J       Date:  1989-03       Impact factor: 29.983

3.  Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA.

Authors:  O P Smith; I M Hann; C E Woodward; M Brockington
Journal:  Br J Haematol       Date:  1995-06       Impact factor: 6.998
  3 in total
  4 in total

1.  Cardiac arrest in kearns-sayre syndrome.

Authors:  Ingrid van Beynum; Eva Morava; Marjan Taher; Richard J Rodenburg; Judit Karteszi; Kalman Toth; Eszter Szabados
Journal:  JIMD Rep       Date:  2011-09-06

2.  Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Authors:  Alexander Broomfield; Mary G Sweeney; Cathy E Woodward; Carl Fratter; Andrew M Morris; James V Leonard; Lara Abulhoul; Stephanie Grunewald; Peter T Clayton; Michael G Hanna; Joanna Poulton; Shamima Rahman
Journal:  J Inherit Metab Dis       Date:  2014-10-29       Impact factor: 4.982

3.  Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.

Authors:  Josef Finsterer; Fulvio A Scorza; Carla A Scorza
Journal:  Med Arch       Date:  2018-06

4.  A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

Authors:  Rojeen Shahni; Yehani Wedatilake; Maureen A Cleary; Keith J Lindley; Keith R Sibson; Shamima Rahman
Journal:  Am J Med Genet A       Date:  2013-08-05       Impact factor: 2.802
  4 in total

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