Renal involvement in mitochondrial cytopathies (Q41101804)

26 September 2017

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title

Renal involvement in mitochondrial cytopathies (English)

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26 September 2017

P Niaudet

1

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26 September 2017

A Rötig

series ordinal

2

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26 September 2017

publication date

1 June 1996

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26 September 2017

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26 September 2017

volume

10

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26 September 2017

issue

3

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26 September 2017

page(s)

368-373

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

26 September 2017

cites work

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12 December 2020

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

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12 December 2020

Sequence and organization of the human mitochondrial genome

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12 December 2020

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

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12 December 2020

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

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12 December 2020

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

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12 December 2020

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

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12 December 2020

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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12 December 2020

Maternal genes: mitochondrial diseases.

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12 December 2020

Clinical aspects of mitochondrial disorders

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12 December 2020

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high

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12 December 2020

Mitochondrial encephalomyopathies

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12 December 2020

Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies

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12 December 2020

Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

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12 December 2020

Precise identification of individual promoters for transcription of each strand of human mitochondrial DNA.

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12 December 2020

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

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12 December 2020

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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12 December 2020

Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria

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12 December 2020

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

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12 December 2020

Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy

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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

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

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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

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

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12 December 2020

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

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12 December 2020

Replication of animal mitochondrial DNA.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mitochondrial encephalomyopathies: clinical and molecular analysis

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12 December 2020

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies

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12 December 2020

Maternal inheritance of human mitochondrial DNA

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12 December 2020

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

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12 December 2020

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

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12 December 2020

Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus

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12 December 2020

Kearns-Sayre syndrome presenting as renal tubular acidosis

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12 December 2020

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

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12 December 2020

Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

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12 December 2020

The mitochondrial electron transport and oxidative phosphorylation system

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12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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12 December 2020

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

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12 December 2020

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

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12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

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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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12 December 2020

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

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12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

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12 December 2020

Cytochrome-c-oxidase deficiency in a floppy infant

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12 December 2020

The development of mitochondrial medicine

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12 December 2020

Diseases of the mitochondrial DNA.

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12 December 2020

Mitochondrial encephalomyopathies

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12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

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12 December 2020

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

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12 December 2020

Structure and function of the mitochondrial genome

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12 December 2020

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

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12 December 2020

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy

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12 December 2020

The clinical features of mitochondrial myopathy

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12 December 2020

Renal function studies and kidney pyruvate carboxylase in subacute necrotizing encephalomyelopathy (Leigh's syndrome).

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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

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

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12 December 2020

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

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12 December 2020

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease

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12 December 2020

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

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12 December 2020

Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders

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12 December 2020

Identification of a promoter for transcription of the heavy strand of human mtDNA: In vitro transcription and deletion mutagenesis

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12 December 2020

Duplications of mitochondrial DNA in mitochondrial myopathy

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12 December 2020

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness

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12 December 2020

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

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12 December 2020

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

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12 December 2020

Identifiers

DOI

10.1007/S004670050127

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release_4ggkm2lx2rguzmrc4zk4fdhvmy

26 September 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/4ggkm2lx2rguzmrc4zk4fdhvmy

24 November 2022

mapped directly with Wikidata item

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