(Q41146469)

27 September 2017

Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes (English)

1 reference

27 September 2017

4

Larsson NG

1 reference

27 September 2017

Tulinius MH

1

1 reference

27 September 2017

Holme E

series ordinal

2

1 reference

27 September 2017

Kristiansson B

series ordinal

3

1 reference

27 September 2017

Oldfors A

series ordinal

5

1 reference

27 September 2017

language of work or name

English

0 references

publication date

1 August 1991

1 reference

The Journal of Pediatrics

27 September 2017

1 reference

27 September 2017

119

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27 September 2017

251-259

1 reference

27 September 2017

2

1 reference

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

27 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

7 January 2021

Mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Subacute necrotizing encephalomyelopathy in an infant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

The clinical features of mitochondrial myopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

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%2980735-8

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%2980735-8

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%2980735-8

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%2980735-8

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Neuropathology in Kearns-Sayre syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Cytochrome c oxidase deficiency in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Mitochondrial myopathy and cardiomyopathy in siblings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

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%2980735-8

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%2980735-8

Cytochrome c oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

7 January 2021

Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Disproportionate deficiency of iron-sulfur clusters and subunits of complex I in mitochondrial encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Mitochondrial mutation in fatal infantile cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Cytochrome c oxidase deficiency in Leigh syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Progressive neuronal degeneration of childhood with liver disease ("Alpers' disease"): characteristic neurophysiological features.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Pyruvate dehydrogenase deficiency restricted to brain.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

The biochemical basis of mitochondrial diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980735-8

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(05)80735-8

1 reference

27 September 2017

1 reference