Fatal infantile liver failure associated with mitochondrial DNA depletion (Q41905348)

13 October 2017

title

Fatal infantile liver failure associated with mitochondrial DNA depletion (English)

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13 October 2017

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E Bertini

3

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Gabriella Silvestri

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author name string

M R Mazziotta

1

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13 October 2017

E Ricci

2

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13 October 2017

C Dionisi Vici

4

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13 October 2017

S Servidei

5

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13 October 2017

A B Burlina

6

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13 October 2017

G Sabetta

7

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13 October 2017

A Bartuli

8

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13 October 2017

G Manfredi

9

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13 October 2017

G Silvestri

10

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13 October 2017

language of work or name

English

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publication date

1 December 1992

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The Journal of Pediatrics

13 October 2017

published in

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13 October 2017

volume

121

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13 October 2017

issue

6

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13 October 2017

page(s)

896-901

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describes a project that uses

13 October 2017

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An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

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Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

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Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

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Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

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Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria

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Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

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Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

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Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

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Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

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Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle

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Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

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Benign reversible muscle cytochrome c oxidase deficiency: a second case

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Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency

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A newborn infant with respiratory distress and persistent stridulous breathing

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Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.

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

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Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

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MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

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Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

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Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

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10.1016/S0022-3476(05)80335-X

7 January 2021

Identifiers

DOI

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13 October 2017

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