Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome

Author:

Atale Agnès,Bonneau-Amati Patrizia,Rötig Agnès,Fischer Alain,Perez-Martin Stéphanie,de Lonlay Pascale,Niaudet Patrick,De Parscau L.,Mousson C.,Thauvin-Robinet C.,Munnich A.,Huet F.,Faivre L.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference16 articles.

1. A case of Pearson syndrome associated with multiple renal cysts;Gurgey;Pediatr. Nephrol.,1996

2. Progressive increase of the mutated mitochondrial DNA fraction in Kearns–Sayre syndrome;Larsson;Pediatr. Res.,1990

3. The neurological evolution of Pearson syndrome: case report and literature review;Lee;Eur. J. Paediatr. Neurol.,2007

4. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA;McShane;Am. J. Hum. Genet.,1991

5. Clinical aspects of mitochondrial disorders;Munnich;J. Inherit. Metab. Dis.,1992

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