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Mitochondrion, ISSN 1567-7249, 11/2013, Volume 13, Issue 6, pp. 906 - 906
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2013, Volume 8, Issue 1, pp. 193 - 193
Background: Mutations in the mitochondrial tyrosyl-tRNA synthetase (YARS2) gene have previously been identified as a cause of the tissue specific mitochondrial... 
Inborn error of metabolism | Myopathy with lactic acidosis and sideroblastic anemia | Aminoacyl tRNA-synthetase | Lactic acidaemia | Muscle diseases | Mitochondrial myopathies | Mutation | Mitochondrial respiratory chain | MEDICINE, RESEARCH & EXPERIMENTAL | DNA HAPLOGROUPS | INITIATION | TRANSCRIPTION | CARDIOMYOPATHY | DEFICIENCIES | PERRAULT SYNDROME | HEARING-LOSS | DISEASES | GENETICS & HEREDITY | TRANSFER-RNA-SYNTHETASE | RESPIRATORY-CHAIN DISORDERS | Mitochondrial Myopathies - metabolism | Acidosis, Lactic - genetics | Humans | Child, Preschool | Infant | Tyrosine-tRNA Ligase - genetics | Anemia, Sideroblastic - genetics | Anemia, Sideroblastic - metabolism | Young Adult | Mitochondrial Myopathies - genetics | DNA, Mitochondrial - genetics | Adolescent | Tyrosine-tRNA Ligase - metabolism | Acidosis, Lactic - metabolism | Adult | Female | Hydro-Lyases - metabolism | Hydro-Lyases - genetics | Child | Infant, Newborn | Gene mutations | Physiological aspects | Genetic aspects | Mitochondrial DNA | Sideroblastic anemia | Diagnosis | Research | Lactic acidosis | Risk factors | Medical research | Anemia | Medicine, Experimental | Nucleotide sequencing | DNA sequencing | Enzymes | Pathogenesis | Cardiomyopathy | Cloning | Colleges & universities | Families & family life | Experiments | Patients | Children & youth | Proteins | Ostomy | Hospitals | Protein synthesis | Dysphagia | Metabolic disorders | Life Sciences | Genetics
Journal Article
Biochimica et biophysica acta, ISSN 0006-3002, 04/2014, Volume 1840, Issue 4, p. 1368
Mitochondrial respiratory chain disorders (MRCDs) are some of the most common metabolic disorders presenting in childhood, however because of it clinical... 
Mitochondrial Diseases - genetics | Enzyme Replacement Therapy - trends | Molecular Targeted Therapy - trends | Age Factors | Humans | Biomedical Research - trends | Genetic Therapy - trends | Mitochondrial Diseases - therapy | Child | Genomics - trends | Exercise Therapy | Mitochondrial Diseases - diagnosis
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, p. e104879
Journal Article
Journal Article
Genome Research, ISSN 1088-9051, 10/2003, Volume 13, Issue 10, pp. 2363 - 2371
Journal Article
Journal Article
Journal Article
Anaesthesia and Intensive Care, ISSN 0310-057X, 2019, Volume 47, Issue 3, pp. 274 - 280
Paediatric airway management is a challenging area of anaesthesia practice to learn. Techniques and skills required need modification from adult practice and... 
intensive care | Education | qualitative | airway | airway management | education training | child | MANAGEMENT | TRACHEOTOMY | DIFFICULT AIRWAY | GUIDELINES | INTUBATE | SIMULATION | TRANSTRACHEAL | ANESTHESIOLOGY | DEVICES | CRITICAL CARE MEDICINE
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 384 - 389
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, p. 384
  Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report mutations (c.288G>T... 
Proteins | Mitochondria | Hyperglycemia | Membranes | Yeast | Mutation | Insulin
Journal Article