(Q50550831)

15 March 2018

title

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. (English)

1 reference

15 March 2018

1 reference

Goto Y

1

1 reference

15 March 2018

Itami N

2

1 reference

15 March 2018

Kajii N

3

1 reference

15 March 2018

Tochimaru H

4

1 reference

15 March 2018

Endo M

5

1 reference

15 March 2018

Horai S

6

1 reference

15 March 2018

language of work or name

English

0 references

publication date

1 June 1990

1 reference

15 March 2018

The Journal of Pediatrics

published in

1 reference

15 March 2018

volume

116

1 reference

15 March 2018

issue

6

1 reference

15 March 2018

page(s)

904-910

1 reference

15 March 2018

cites work

Mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

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%2980648-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

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%2980648-1

Cytochrome-c-oxidase deficiency in a floppy infant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

The pathogenetic spectrum of Bartter's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Visualization of peroxisomes (microbodies) and mitochondria with diaminobenzidine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Detection of specific sequences among DNA fragments separated by gel electrophoresis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Mitochondrial DNA polymorphism in Japanese. I. Analysis with restriction enzymes of six base pair recognition

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Sequence and organization of the human mitochondrial genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

A new mitochondrial myopathy in a patient with salt craving.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Renal ischemia: a new perspective

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Evidence for a prostaglandin-independent defect in chloride reabsorption in the loop of henle as a proximal cause of Bartter's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Bartter's syndrome due to a defect in salt reabsorption in the distal convoluted tubule.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Neurodegenerative disorders and hyperaldosteronism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Abnormal mitochondria on a renal biopsy from a case of mitochondrial myopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980648-1

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%2980648-1

10.1016/S0022-3476(05)80648-1

7 January 2021

Identifiers

DOI

1 reference

15 March 2018

1 reference

15 March 2018