Literature DB >> 9279155

Pearson's syndrome without marrow involvement.

A A Morris1, P J Lamont, P T Clayton.   

Abstract

A child with a mitochondrial DNA deletion who presented with pancreatic exocrine insufficiency is reported. Though she developed many other features of Pearson's syndrome, there was no bone marrow involvement. Syndromes associated with mitochondrial DNA defects are highly variable and absence of one feature should not inhibit investigation.

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Year:  1997        PMID： 9279155      PMCID： PMC1717248          DOI： 10.1136/adc.77.1.56

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  5 in total

1.  A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Authors:  I J Holt; A E Harding; R K Petty; J A Morgan-Hughes
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

2.  Test meal for assessing intraluminal phase of absorption in childhood.

Authors:  J P McCollum; D P Muller; J T Harries
Journal:  Arch Dis Child       Date:  1977-11       Impact factor: 3.791

3.  Shwachman's syndrome. A review of 21 cases.

Authors:  P J Aggett; N P Cavanagh; D J Matthew; J R Pincott; J Sutcliffe; J T Harries
Journal:  Arch Dis Child       Date:  1980-05       Impact factor: 3.791

4.  Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Authors:  A Rötig; T Bourgeron; D Chretien; P Rustin; A Munnich
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

5.  A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.

Authors:  H A Pearson; J S Lobel; S A Kocoshis; J L Naiman; J Windmiller; A T Lammi; R Hoffman; J C Marsh
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406
  5 in total
  3 in total

1.  De Toni-Debré-Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNA.

Authors:  Abelardo Solano; Giovanna Russo; Ana Playán; Maria Parisi; Massimo DiPietro; Antonino Scuderi; Maddalena Palumbo; Marcella Renis; Manuel J López-Pérez; Antoni L Andreu; Julio Montoya
Journal:  Pediatr Nephrol       Date:  2004-05-07       Impact factor: 3.714

2.  Clinical and laboratory findings in referrals for mitochondrial DNA analysis.

Authors:  P J Lamont; R Surtees; C E Woodward; J V Leonard; N W Wood; A E Harding
Journal:  Arch Dis Child       Date:  1998-07       Impact factor: 3.791

3.  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 in total

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