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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 293 - 300
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2008, Volume 82, Issue 3, pp. 652 - 660
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2/2012, Volume 21, Issue 3, pp. 526 - 535
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2007, Volume 44, Issue 3, pp. 173 - 180
Introduction: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopathy with lactic acidosis and... 
YEAST | IMPORT | PROTEIN | GENE | BIOGENESIS | DISEASE | GENETICS & HEREDITY | MISSENSE MUTATION | TRANSFER-RNA | PSEUDOURIDINE SYNTHASE-1 | MITOCHONDRIAL MYOPATHY | Fibroblasts - enzymology | Hydro-Lyases - deficiency | Acidosis, Lactic - genetics | Electron Transport Complex I - deficiency | Humans | Molecular Sequence Data | Human Growth Hormone - deficiency | Male | Protein Transport - drug effects | Cell Nucleus - enzymology | Intellectual Disability - genetics | Acidosis, Lactic - enzymology | Transfection | Fatal Outcome | Transcription, Genetic | Hydro-Lyases - genetics | Infant, Newborn | Valinomycin - pharmacology | Amino Acid Sequence | Muscle, Skeletal - enzymology | Mitochondria, Muscle - enzymology | Protein Isoforms - analysis | Codon, Nonsense | Fibroblasts - pathology | Syndrome | Protein Precursors - metabolism | Anemia, Sideroblastic - genetics | Mitochondrial Myopathies - genetics | Phenotype | Mitochondrial Myopathies - enzymology | Anemia, Sideroblastic - enzymology | Consanguinity | Protein Processing, Post-Translational | HeLa Cells | Hydro-Lyases - chemistry | Muscle, Skeletal - pathology | Cytochrome-c Oxidase Deficiency - genetics | Protein Isoforms - genetics | Muscle diseases | Genetic aspects | Sideroblastic anemia | Gene mutations | Lactic acidosis | Analysis | Proteins | Enzymes | Ultrasonic imaging | Polypeptides | Fibroblasts | Growth hormones | Mitochondrial DNA | Mutation | Localization | Patients | Age | Defects | tRNA | myopathy | PUS1 | lactic acidosis | pseudouridylation | mtDNA translation | mitochondrial disorders | Original | sideroblastic anaemia | respiratory chain
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 12/2015, Volume 174, Issue 12, pp. 1593 - 1602
Pearson marrow-pancreas syndrome (PS) is a rare mitochondrial disorder. Impaired mitochondrial respiratory chain complexes (MRCC) differ among individuals and... 
Pearson marrow-pancreas syndrome | Pediatrics | 3-Methylglutaconic aciduria | Medicine & Public Health | Organic aciduria | Mitochondrial respiratory chain complexes | ADRENAL INSUFFICIENCY | I DEFICIENCY | DISORDERS | MYOPATHY | DNA REARRANGEMENTS | CHILDREN | MTDNA DELETION | PEDIATRICS | PATIENT | INFANT | Blotting, Southern | Fibroblasts - enzymology | Skin - cytology | Lipid Metabolism, Inborn Errors - genetics | Muscular Diseases - enzymology | Humans | Child, Preschool | Metabolism, Inborn Errors - enzymology | Electron Transport Complex I - metabolism | Lipid Metabolism, Inborn Errors - enzymology | Electron Transport Complex IV - metabolism | DNA, Mitochondrial - genetics | Gene Deletion | Fatal Outcome | Polymerase Chain Reaction | Female | Mitochondrial Myopathies - diagnosis | Mitochondrial Diseases - genetics | Mitochondria, Muscle - enzymology | Lipid Metabolism, Inborn Errors - diagnosis | Acyl-CoA Dehydrogenase, Long-Chain - genetics | Mitochondria, Heart - enzymology | Metabolism, Inborn Errors - genetics | Mitochondria, Liver - enzymology | Mitochondrial Diseases - enzymology | Muscular Diseases - diagnosis | Metabolism, Inborn Errors - diagnosis | Mitochondrial Myopathies - genetics | Mitochondrial Myopathies - enzymology | Muscular Diseases - genetics | Mitochondrial Diseases - diagnosis | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Enzymes | Mitochondrial DNA | Auks | Liver
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 409 - 415
Mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a quantitative reduction of the... 
DGUOK | mtDNA depletion | SUCLG1 | SUCLA2 | MPV17 | POLG | MtDNA depletion | THYMIDINE KINASE | MEDICINE, RESEARCH & EXPERIMENTAL | DEOXYGUANOSINE KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISORDERS | DEFICIENCY | MPV17 GENE | GENETICS & HEREDITY | SUCLA2 MUTATIONS | LACTIC-ACIDOSIS | ENCEPHALOMYOPATHY | METHYLMALONIC ACIDURIA | DNA Polymerase gamma | Mitochondria - enzymology | Muscular Diseases - enzymology | Humans | Male | Diffuse Cerebral Sclerosis of Schilder - diagnosis | Metabolism, Inborn Errors - enzymology | DNA-Directed DNA Polymerase - genetics | DNA Copy Number Variations | Young Adult | Diffuse Cerebral Sclerosis of Schilder - genetics | DNA, Mitochondrial - genetics | Mitochondria - genetics | DNA Mutational Analysis | Female | Mitochondrial Myopathies - diagnosis | Diffuse Cerebral Sclerosis of Schilder - enzymology | Child | Mitochondrial Diseases - genetics | Succinate-CoA Ligases - genetics | Phosphotransferases (Alcohol Group Acceptor) - genetics | Metabolism, Inborn Errors - genetics | Mitochondrial Diseases - enzymology | Muscular Diseases - diagnosis | Metabolism, Inborn Errors - diagnosis | Mitochondrial Myopathies - genetics | Adolescent | Citrate (si)-Synthase - genetics | Mitochondrial Myopathies - enzymology | Muscular Diseases - genetics | Mutation | Mitochondrial Diseases - diagnosis | Pediatrics | Mitochondria | Liver | Muscles | Mitochondrial DNA | Electron transport | copy number | Age | Citric acid
Journal Article