Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome
- 1 April 1994
- journal article
- case report
- Published by Springer Nature in Pediatric Nephrology
- Vol. 8 (2), 164-168
- https://doi.org/10.1007/bf00865468
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscleBiochemical and Biophysical Research Communications, 1990
- Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.JCI Insight, 1990
- Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndromeThe Journal of Pediatrics, 1990
- Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre SyndromeNew England Journal of Medicine, 1989
- MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROMEThe Lancet, 1989
- de Toni-Fanconi-Debré syndrome with leigh syndrome revealing severe muscle cytochrome c oxidase deficiencyThe Journal of Pediatrics, 1988
- Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patientAnnals of Neurology, 1985
- Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonateThe Journal of Pediatrics, 1981
- A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunctionThe Journal of Pediatrics, 1979
- Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated MusclesPediatric Research, 1977