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Human Pathology, ISSN 0046-8177, 2015, Volume 49, pp. 27 - 32
Summary Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and... 
Pathology | Metabolic disease | Lethal neonatal lactic acidosis | Whole-exome sequencing | Mitochondriopathy | Complex I deficiency | ACAD9 defect | Mitochondrial hyperplasia | Multiorgan failure | DIAGNOSIS | CARDIOMYOPATHY | PATHOLOGY | GENE | DNA | EXPRESSION | Immunohistochemistry | Fibroblasts - enzymology | Diaphragm - pathology | Mitochondria, Heart - pathology | Electron Transport Complex I - deficiency | Humans | Hyperplasia | Male | Cardiomyopathy, Hypertrophic - enzymology | Acyl-CoA Dehydrogenases - genetics | Leigh Disease - pathology | Muscle Weakness - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Autopsy | DNA Mutational Analysis | Electron Transport Complex I - genetics | Fatal Outcome | Muscle Weakness - pathology | Acyl-CoA Dehydrogenases - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Kidney Tubules - pathology | Infant, Newborn | Multiple Organ Failure - pathology | Acyl-CoA Dehydrogenase - genetics | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Mitochondria, Liver - pathology | Mitochondria, Heart - enzymology | Fibroblasts - pathology | Leigh Disease - genetics | Acidosis, Lactic - pathology | Cardiomyopathy, Hypertrophic - diagnosis | Mitochondrial Diseases - enzymology | Phenotype | Acyl-CoA Dehydrogenase - deficiency | Kidney Tubules - enzymology | Acidosis - diagnosis | Multiple Organ Failure - enzymology | Acidosis - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Mitochondrial Diseases - pathology | Muscle Weakness - diagnosis | Acidosis, Lactic - genetics | Cause of Death | Acidosis, Lactic - enzymology | Amino Acid Metabolism, Inborn Errors - diagnosis | DNA, Mitochondrial - genetics | Muscle Weakness - enzymology | Transfection | Mitochondrial Diseases - genetics | Mitochondria, Muscle - enzymology | Mitochondria, Muscle - pathology | Leigh Disease - enzymology | Cells, Cultured | Multiple Organ Failure - genetics | Codon, Nonsense | Mitochondria, Liver - enzymology | Multiple Organ Failure - diagnosis | Diaphragm - enzymology | Acidosis - pathology | Leigh Disease - diagnosis | Acidosis - enzymology | Mitochondrial Diseases - diagnosis | Acidosis, Lactic - diagnosis | Cardiomyopathy, Hypertrophic - pathology | Infants (Newborn) | Muscles | Genetic aspects | Mitochondrial DNA | Liver | Heart | Urine | Cytochrome | Antigens | Enzymes | Cytomegalovirus | Cardiomyopathy | Defects | Musculoskeletal system | Databases | Rodents | Fibroblasts | Oxidation | Mutation | Metabolic disorders | Deoxyribonucleic acid--DNA
Journal Article
Circulation (New York, N.Y.), ISSN 1524-4539, 2015, Volume 131, Issue 6, pp. 550 - 559
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2016, Volume 68, Issue 22, pp. 2395 - 2407
Journal Article
PloS one, ISSN 1932-6203, 2018, Volume 13, Issue 3, p. e0193967
Objectives A novel paradigm of diastolic left ventricular (LV) dysfunction proposes involvement of the cardiac microvasculature. Vitamin K dependent matrix Gla... 
POWERFUL PREDICTOR | GENERAL-POPULATION | MENAQUINONE-7 SUPPLEMENTATION | ARTERIAL STIFFNESS | MULTIDISCIPLINARY SCIENCES | HEART-FAILURE | K-DEPENDENT PROTECTION | VITAMIN-K | PRESERVED EJECTION FRACTION | BONE MORPHOGENETIC PROTEIN-4 | FILLING PRESSURE | Multivariate Analysis | Myocardial Ischemia - metabolism | Cardiomyopathy, Dilated - pathology | Cardiomyopathy, Dilated - surgery | Humans | Middle Aged | Male | Young Adult | Netherlands | Myocardium - metabolism | Ventricular Dysfunction, Left - pathology | Aged, 80 and over | Electrocardiography | Myocardial Ischemia - diagnostic imaging | Adult | Female | Extracellular Matrix Proteins - metabolism | Calcium-Binding Proteins - metabolism | Ventricular Dysfunction, Left - epidemiology | Heart Transplantation | Myocardium - pathology | Cardiomyopathy, Dilated - metabolism | Switzerland | Ventricular Dysfunction, Left - diagnostic imaging | Heart - diagnostic imaging | Myocardial Ischemia - pathology | Ventricular Dysfunction, Left - metabolism | Cardiomyopathy, Dilated - diagnostic imaging | Aged | Myocardial Ischemia - surgery | Cohort Studies | Physiological aspects | Development and progression | Calcium-binding proteins | Heart enlargement | Health aspects | Heart muscle | Health care | Heart | Nephrology | Cardiomyopathy | Antibodies | Interstitial cells | Epidemiology | Proteins | Ischemia | Measurement methods | Population | Blood pressure | Capillaries | Cardiology | Heart diseases | Enzyme-linked immunosorbent assay | Vitamin K | Hypertension | Research & development--R&D | Hospitals | Dilated cardiomyopathy | Calcification | Myocardium | Microvasculature | Ventricle | Integrity | Research & development | R&D
Journal Article