(Q46486281)

22 December 2017

title

Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome (English)

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22 December 2017

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mitochondrial myopathy

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Kitano A

1

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22 December 2017

Nishiyama S

2

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22 December 2017

Miike T

3

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22 December 2017

Hattori S

4

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22 December 2017

Ohtani Y

5

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22 December 2017

Matsuda I

6

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22 December 2017

publication date

1 January 1986

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22 December 2017

published in

Brain and Development

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22 December 2017

volume

8

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22 December 2017

issue

3

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22 December 2017

page(s)

289-295

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22 December 2017

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

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7 January 2021

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Cytochrome-c-oxidase deficiency in a floppy infant

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7 January 2021

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

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7 January 2021

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

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7 January 2021

Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency

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7 January 2021

Studies on cytochrome a. XV. Cytochrome oxidase activity of the Okunuki preparation and its activation by heat, alkali and detergent treatments.

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7 January 2021

Determination of pyruvate dehydrogenase in cultured human fibroblasts and amniotic fluid cells

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7 January 2021

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

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7 January 2021

Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH.

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7 January 2021

Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

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7 January 2021

Pyruvate dehydrogenase deficiency in spinocerebellar degenerations

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7 January 2021

Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport

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7 January 2021

Renal handling of free and acylcarnitine in secondary carnitine deficiency

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7 January 2021

Primary systemic carnitine deficiency. II. Renal handling of carnitine

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7 January 2021

Disorders of lipid metabolism in muscle.

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7 January 2021

10.1016/S0387-7604(86)80085-7

Identifiers

DOI

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22 December 2017

PubMed ID

3021012

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22 December 2017