Clinical presentations of coenzyme Q10 deficiency syndrome

Molecular Syndromology

Volumn 5, Issue 3-4, 2014, Pages 141-146

  Quinzii, Catarina M ^a   Emmanuele, Valentina ^a   Hirano, Michio ^a  

^a NewYork Presbyterian Hospital   (United States)

Author keywords

Cerebellar ataxia; Encephalomyopathy; Steroid resistant nephrotic syndrome

Indexed keywords

FAT DROPLET; UBIDECARENONE;

ARTICLE; ATAXIA; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILDHOOD DISEASE; CLINICAL FEATURE; COENZYME Q10 DEFICIENCY SYNDROME; DISEASE SEVERITY; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; HUMAN; HYPOGONADISM; ISOLATED MYOPATHY; LEARNING DISORDER; LIPID STORAGE; MENTAL DEFICIENCY; MILD COGNITIVE IMPAIRMENT; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE WEAKNESS; MYOPATHY; NEPHROTIC SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEIZURE; SEVERE INFANTILE MULTISYSTEMIC DISEASE; SYSTEMATIC REVIEW; SYSTEMIC DISEASE; VITAMIN SUPPLEMENTATION; GENOTYPE PHENOTYPE CORRELATION; INFANT DISEASE; KIDNEY DISEASE; MOLECULAR DIAGNOSIS; PHENOTYPE; UBIDECARENONE DEFICIENCY SYNDROME;

EID: 84904002898     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000360490     Document Type: Article

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