Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome (Q59619375)

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23 October 2019

title

Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome (English)

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23 October 2019

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23 October 2019

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23 October 2019

P Niaudet

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23 October 2019

A Munnich

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23 October 2019

J Schmitz

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23 October 2019

F Bouissou

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23 October 2019

A Rötig

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publication date

1 April 1994

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23 October 2019

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volume

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issue

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page(s)

164-168

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Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

23 October 2019

cites work

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12 December 2020

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

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12 December 2020

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

1 reference

12 December 2020

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

1 reference

12 December 2020

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

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12 December 2020

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

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12 December 2020

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

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12 December 2020

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

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12 December 2020

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

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12 December 2020

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome

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12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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12 December 2020

Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate

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12 December 2020

Kearns-Sayre syndrome presenting as renal tubular acidosis

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12 December 2020

Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion

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12 December 2020

Refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. Study of a new case

1 reference

12 December 2020

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00865468

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23 October 2019

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