(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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

Benign reversible muscle cytochrome c oxidase deficiency: a second case

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

A newborn infant with respiratory distress and persistent stridulous breathing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980335-X

10.1016/S0022-3476(05)80335-X

7 January 2021

Identifiers

DOI

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13 October 2017

1 reference