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Literature DB >> 7745569

The investigation of mitochondrial respiratory chain disease.

A A Morris¹, M J Jackson, L A Bindoff, D M Turnbull.

Abstract

Entities: Disease

Mesh：

Year: 1995 PMID： 7745569 PMCID： PMC1295169

Source DB: PubMed Journal: J R Soc Med ISSN： 0141-0768 Impact factor: 5.344

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30 in total

1. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder.

Authors: A Bardosi; W Creutzfeldt; S DiMauro; K Felgenhauer; R L Friede; H H Goebel; A Kohlschütter; G Mayer; G Rahlf; S Servidei
Journal: Acta Neuropathol Date: 1987 Impact factor: 17.088

2. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Authors: I J Holt; A E Harding; R K Petty; J A Morgan-Hughes
Journal: Am J Hum Genet Date: 1990-03 Impact factor: 11.025

3. Kearns-Sayre syndrome and hypoparathyroidism.

Authors: J M Pellock; M Behrens; L Lewis; D Holub; S Carter; L P Rowland
Journal: Ann Neurol Date: 1978-05 Impact factor: 10.422

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

Authors: M A Birch-Machin; I M Shepherd; N J Watmough; H S Sherratt; K Bartlett; V M Darley-Usmar; D W Milligan; R J Welch; A Aynsley-Green; D M Turnbull
Journal: Pediatr Res Date: 1989-05 Impact factor: 3.756

5. Improvement of nutritional status and lung function after long-term nocturnal gastrostomy feedings in cystic fibrosis.

Authors: G Steinkamp; H von der Hardt
Journal: J Pediatr Date: 1994-02 Impact factor: 4.406

6. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.

Authors: P G Barth; H R Scholte; J A Berden; J M Van der Klei-Van Moorsel; I E Luyt-Houwen; E T Van 't Veer-Korthof; J J Van der Harten; M A Sobotka-Plojhar
Journal: J Neurol Sci Date: 1983-12 Impact factor: 3.181

7. Intravenous pyruvate loading test in Leigh syndrome.

Authors: P M Van Erven; F J Gabreëls; R A Wevers; W H Doesburg; W Ruitenbeek; W O Renier; K J Lamers
Journal: J Neurol Sci Date: 1987-02 Impact factor: 3.181

Review 8. Mitochondrial myopathies.

Authors: S DiMauro; E Bonilla; M Zeviani; M Nakagawa; D C DeVivo
Journal: Ann Neurol Date: 1985-06 Impact factor: 10.422

4. The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.

Authors: J Loeffen; R Smeets; J Smeitink; R Triepels; R Sengers; F Trijbels; L van den Heuvel
Journal: J Inherit Metab Dis Date: 1999-02 Impact factor: 4.982

4 in total

The investigation of mitochondrial respiratory chain disease.

1. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder.

2. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

3. Kearns-Sayre syndrome and hypoparathyroidism.

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

5. Improvement of nutritional status and lung function after long-term nocturnal gastrostomy feedings in cystic fibrosis.

6. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.

7. Intravenous pyruvate loading test in Leigh syndrome.

Review 8. Mitochondrial myopathies.

9. Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver.

10. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies.

Review 1. Mitochondrial genotype and clinical phenotype.

Review 2. Disorders of the electron transport chain.

3. The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.

4. The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients.