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Monatsschrift Kinderheilkunde, ISSN 0026-9298, 8/2002, Volume 150, Issue 8, pp. 989 - 995
Hintergrund. Das Leigh-Syndrom ist eine seltene neurodegenerative Erkrankung, die sich in der Mehrzahl der Fälle im frühen Kindesalter manifestiert. Die... 
Hypertensive Krise | Hypertensive crisis | mtDNA nt8993 (T→C) mutation | Leigh syndrome | Schlüsselwörter Leigh-Syndrom | mtDNA nt 8993 (T→C) Mutation | Pediatrics | Medicine & Public Health | General Practice / Family Medicine
Journal Article
MONATSSCHRIFT KINDERHEILKUNDE, ISSN 0026-9298, 08/2002, Volume 150, Issue 8, pp. 989 - 989
Background. Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy or childhood characterized by various clinical presentations. The... 
Leigh syndrome | mtDNA nt8993 (T -> C) mutation | NT-8993 | DISEASE | PEDIATRICS | hypertensive crisis | MITOCHONDRIAL-DNA
Journal Article
BBA - Bioenergetics, ISSN 0005-2728, 2007, Volume 1767, Issue 7, pp. 913 - 919
Two point mutations (T > G and T > C) at the same 8993 nucleotide of mitochondrial DNA (at comparable mutant load), affecting the ATPase 6 subunit of the F F... 
T8993C | ATP synthase | Mitochondria | Membrane potential | mtDNA | ROS | CATALASE | DNA T8993G MUTATION | CELLS | PATHOGENIC MECHANISM | mitochondria | BIOCHEMISTRY & MOLECULAR BIOLOGY | ALPHA | RHODAMINE-123 | DISEASES | BIOPHYSICS | LEIGH-SYNDROME | membrane potential | NARP MUTATION | Genetic research | Phenotype | Genetic aspects | Gene mutations
Journal Article
Journal Article
BBA - Bioenergetics, ISSN 0005-2728, 10/2012, Volume 1817, Issue 10, pp. 1740 - 1746
Journal Article
Molecular Medicine Reports, ISSN 1791-2997, 2013, Volume 8, Issue 4, pp. 1060 - 1066
Metabolic syndrome (MS) is a complex disorder characterized by a group of metabolic abnormalities. In the present study, the case of an 18-year-old male who... 
Metabolic syndrome | Mitochondrial DNA | Mutation | GENE-MUTATIONS | MEDICINE, RESEARCH & EXPERIMENTAL | mitochondrial DNA | RISK | PREVALENCE | IMPAIRMENT | metabolic syndrome | ATP SYNTHESIS | ENCEPHALOPATHY | mutation | MTDNA | ONCOLOGY | NARP | INSULIN-RESISTANCE | LACTIC-ACIDOSIS
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 07/2001, Volume 16, Issue 7, pp. 533 - 535
Journal Article
BBA - General Subjects, ISSN 0304-4165, 05/2012, Volume 1820, Issue 5, pp. 637 - 642
Journal Article