(Q50521705)

14 March 2018

title

Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions. (English)

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4

N G Larsson

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author name string

M H Tulinius

1

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A Oldfors

2

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E Holme

3

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M Houshmand

5

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P Fahleson

6

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L Sigström

7

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B Kristiansson

8

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publication date

1 January 1995

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European Journal of Pediatrics

published in

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volume

154

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issue

1

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page(s)

35-42

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describes a project that uses

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https://scigraph.springernature.com/pub.10.1007/s004310050245

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cites work

Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome

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Immunoactive trypsins in duodenal juice from children with gastrointestinal disorders

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Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: An example of phenotypic mimicry?

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Cytochrome c oxidase deficiency in infancy

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Deletion of blood mitochondrial DNA in pancytopenia

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Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

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Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

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12 December 2020

Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres

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Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

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12 December 2020

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

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12 December 2020

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

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12 December 2020

Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues

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

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

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Endocrine dysfunction in Kearns-Sayre syndrome

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

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Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome

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Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

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12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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Kearns-Sayre syndrome presenting as renal tubular acidosis

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Multiple short direct repeats associated with single mtDNA deletions

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12 December 2020

Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion

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Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

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12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

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Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

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12 December 2020

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion

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12 December 2020

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

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12 December 2020

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

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Kearns-sayre syndrome. Two clinico-pathological cases.

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Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease

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Renal and skin involvement in a patient with complete Kearns-Sayre syndrome

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12 December 2020

Identifiers

DOI

10.1007/S004310050245

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14 March 2018

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14 March 2018