Pearson's syndrome without marrow involvement

Archives of Disease in Childhood

Volumn 77, Issue 1, 1997, Pages 56-57

  Morris, A A M ^a,c   Lamont, P J ^b   Clayton, P T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

MtDNA deletion; Pancreatic exocrine insufficiency; Pearson's syndrome

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE DELETION; HUMAN; INFANT; PEARSON SYNDROME; PRIORITY JOURNAL; SOUTHERN BLOTTING;

EID: 0030851461     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.77.1.56     Document Type: Article

References (5)

1. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anaemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979;95:976-84.
2. Rotig A, Bourgeron T. Chrétien D, Rustin P, Munnich A. Spectrum of mitochondria! DNA deletions in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995;4:132730.
3. McCollum JPK, Muller DPR, Harries JT. Test meal for assessing intraluminal phase of absorption in children. Arch Dis Child 1977;52:887-9.
4. Holt IJ, Harding AK, Petty RKH, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNAheteroplasmy./ImJHm Genet 1990;46:428-33.
5. Aggett PJ, Cavanagh NP, Matthew DJ, Pincott JR, Sutcliffe J, Harries JT. Shwachman syndrome. Arch Dis Child 1980; 55:331-47.