Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations (Q67927084)

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19 September 2019

title

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations (English)

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19 September 2019

4

N G Larsson

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19 September 2019

author name string

M H Tulinius

1

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19 September 2019

E Holme

2

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19 September 2019

B Kristiansson

3

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19 September 2019

A Oldfors

5

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19 September 2019

language of work or name

English

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publication date

1 August 1991

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The Journal of Pediatrics

19 September 2019

published in

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19 September 2019

volume

119

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19 September 2019

issue

2

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19 September 2019

page(s)

242-250

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Mitochondrial myopathies. Clinical, morphological and biochemical aspects

19 September 2019

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Mitochondrial myopathies

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Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach

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Lactic acidosis in childhood: Part I.

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Carnitine deficiency induced by pivampicillin and pivmecillinam therapy

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Pyruvate-carboxylase deficiency with urea cycle impairment

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

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Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

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An improved procedure for preparation of inner membrane vesicles from rat liver mitochondria by treatment with digitonin

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Steady-state kinetics of high molecular weight (type-I) NADH dehydrogenase

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Differential investigation of the capacity of succinate oxidation in human skeletal muscle

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

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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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Cytochrome c oxidase deficiency in infancy

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Neuropathology in Kearns-Sayre syndrome

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Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes

7 January 2021

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Reye syndrome: A metabolic response to an acute mitochondrial insult

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Inborn errors of metabolism and Reye syndrome: differential diagnosis

7 January 2021

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Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern

7 January 2021

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Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency

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

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The mitochondrial electron transport and oxidative phosphorylation system

7 January 2021

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

7 January 2021

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Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with special reference to the mechanism of cerebral manifestations

7 January 2021

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

7 January 2021

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

7 January 2021

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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Mitochondrial mutation in fatal infantile cardiomyopathy

7 January 2021

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The clinical features of mitochondrial myopathy

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The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

7 January 2021

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

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Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome

7 January 2021

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10.1016/S0022-3476(05)80734-6

7 January 2021

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1861209%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

1 reference