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

European Journal of Medical Genetics

Volumn 52, Issue 1, 2009, Pages 23-26

  Atale, Agnès ^a   Bonneau Amati, Patrizia ^b   Rötig, Agnès ^c   Fischer, Alain ^c   Perez Martin, Stéphanie ^a   de Lonlay, Pascale ^c   Niaudet, Patrick ^c   De Parscau, L ^d   Mousson, C ^e   Thauvin Robinet, C ^a   Munnich, A ^c   Huet, F ^a   Faivre, L ^a  

^a Medical University of Dijon   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d CHU MORVAN   (France)

^e HÔPITAL DU BOCAGE   (France)

Author keywords

de Toni Debr Fanconi syndrome; Mitochondrial disease; Pearson syndrome; Tubulopathy

Indexed keywords

MITOCHONDRIAL DNA;

ANAMNESIS; ARTICLE; AUTOPSY; BLOOD TRANSFUSION; CASE REPORT; CHILD; CLINICAL FEATURE; CYTOLYSIS; FANCONI RENOTUBULAR SYNDROME; FOLLOW UP; GENE DELETION; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; KIDNEY TUBULE DISORDER; LACTIC ACIDOSIS; MALE; MEDICAL LITERATURE; METABOLIC ACIDOSIS; PANCREAS EXOCRINE INSUFFICIENCY; PANCREAS FUNCTION; PANCYTOPENIA; PEARSON SYNDROME; PRESCHOOL CHILD;

ACIDOSIS, LACTIC; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; FANCONI SYNDROME; GROWTH DISORDERS; HUMANS; INFANT; KIDNEY TUBULES, DISTAL; MALE; MUTATION; PANCREAS; PANCYTOPENIA; SEQUENCE DELETION; SYNDROME;

EID: 58149194694     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.10.003     Document Type: Article

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