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Journal of Biological Chemistry, ISSN 0021-9258, 10/2009, Volume 284, Issue 42, pp. 28926 - 28934
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1254 - 1258
Coenzyme Q10 deficiency is a clinically and genetically heterogeneous disorder, with manifestations that may range from fatal neonatal multisystem failure, to... 
Mitochondrial Diseases - pathology | Muscle Weakness - diagnosis | Acidosis, Lactic - genetics | Humans | Ubiquinone - deficiency | Muscle Weakness - blood | Proteinuria - pathology | Muscle Weakness - genetics | Intellectual Disability - genetics | Proteinuria - blood | Intellectual Disability - blood | Alkyl and Aryl Transferases - genetics | Ubiquinone - blood | Fatal Outcome | Muscle Weakness - pathology | Acidosis, Lactic - blood | Ataxia - blood | Female | Ataxia - genetics | Alkyl and Aryl Transferases - deficiency | Infant, Newborn | Ataxia - pathology | Mitochondria, Muscle - genetics | Mitochondrial Diseases - genetics | Gene Expression | Muscle, Skeletal - enzymology | Mitochondria, Muscle - enzymology | Mitochondria, Muscle - pathology | Ubiquinone - analogs & derivatives | Intellectual Disability - pathology | Ubiquinone - genetics | Proteinuria - genetics | Acidosis, Lactic - pathology | Ataxia - diagnosis | Hepatic Insufficiency - blood | Sequence Analysis, DNA | Renal Aminoacidurias - pathology | Point Mutation | Hepatic Insufficiency - pathology | Hepatic Insufficiency - genetics | Consanguinity | Renal Aminoacidurias - genetics | Muscle, Skeletal - pathology | Mitochondrial Diseases - blood | Mitochondrial Diseases - diagnosis | Renal Aminoacidurias - blood | Neonates | Cell culture | Intensive care | Laboratories | Genomics | Liver | Childrens health | Aciduria | Ventricles (cerebral) | Biosynthesis | Genetic screening | Electron transport chain | Mitochondria | Coenzyme Q10 | Encephalopathy | Fibroblasts | Genetics | Complementation | Supplementation | Diagnosis | Lactic acidosis | Echocardiography | Electron microscopy | Metabolism | Patients | Pregnancy | Cristae | Mutation | Ventricle | Acidosis | Proteinuria | Life Sciences | Human health and pathology | Short Report
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 7
Coenzyme Q10 (CoQ10) deficiencies are a group of heterogeneous conditions that respond to ubiquinone administration if treated soon after the onset of... 
Mitochondria | Menaquinones | Ubiquinone | Coenzyme Q10 | Cell lines | Bioavailability | Electron transport | Electrons | Mammalian cells | Life Sciences | Biochemistry, Molecular Biology
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some... 
MEDICINE, RESEARCH & EXPERIMENTAL | OXIDATIVE STRESS | GENE | COENZYME-Q BIOSYNTHESIS | DIPHOSPHATE SYNTHASE SUBUNIT-2 | NPHS2 | GLOMERULAR PROTEIN | UBIQUINONE BIOSYNTHESIS | COQ DEFICIENCY | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | SACCHAROMYCES-CEREVISIAE | Deafness | Gene mutations | Genetic aspects | Nephrotic syndrome | Research | Health aspects | Risk factors
Journal Article
Journal Article
PLoS Biology, ISSN 1544-9173, 08/2018, Volume 16, Issue 8, p. e2005886
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 187 - 191
Journal Article
Scientific reports, 04/2019, Volume 9, Issue 1, p. 6553
Coenzyme Q (CoQ ) deficiencies are a group of heterogeneous conditions that respond to ubiquinone administration if treated soon after the onset of symptoms.... 
Journal Article