Primary coenzyme Q 10 deficiency presenting as fatal neonatal multiorgan failure

European Journal of Human Genetics

Volumn 23, Issue 9, 2015, Pages 1254-1258

  Desbats, Maria Andrea ^a,b   Vetro, Annalisa ^c   Limongelli, Ivan ^d   Lunardi, Giada ^a,b   Casarin, Alberto ^a,b   Doimo, Mara ^a,b   Spinazzi, Marco ^a   Angelini, Corrado ^a,e   Cenacchi, Giovanna ^f   Burlina, Alberto ^g   Rodriguez Hernandez, Maria Angeles ^h   Chiandetti, Lino ^a   Clementi, Maurizio ^a,b   Trevisson, Eva ^a,b   Navas, Placido ^h   Zuffardi, Orsetta ^d,i   Salviati, Leonardo ^a,b  

^a UNIVERSITY OF PADOVA   (Italy)

^b IRP Citt della Speranza   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e IRCCS SAN CAMILLO HOSPITAL   (Italy)

^f UNIVERSITY OF BOLOGNA   (Italy)

^g UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^h INSTITUTO DE SALUD CARLOS III   (Spain)

ⁱ C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALBUMIN; DICARBOXYLIC ACID; INOTROPIC AGENT; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIDECARENONE; UBIQUINOL CYTOCHROME C REDUCTASE; 4-HYDROXYBENZOATE POLYPRENYLTRANSFERASE; TRANSFERASE; UBIQUINONE;

ACIDURIA; ALBUMIN BLOOD LEVEL; APGAR SCORE; BIOSYNTHESIS; CASE REPORT; COENZYME Q10 DEFICIENCY; DICARBOXYLIC ACIDURIA; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHOCARDIOGRAPHY; ELECTRON MICROSCOPY; ENZYMATIC ASSAY; EXOME; FATAL NEONATAL MULTIORGAN FAILURE; FEMALE; GENETIC DISORDER; HEART DILATATION; HEART LEFT VENTRICLE; HEART LEFT VENTRICLE DILATATION; HETEROZYGOTE; HISTOCHEMISTRY; HISTOLOGY; HOMOLOGOUS RECOMBINATION; HUMAN; KETOACIDOSIS; LACTIC ACIDOSIS; LIPID STORAGE; LIVER FAILURE; METABOLIC ACIDOSIS; MITOCHONDRION; MULTIPLE ORGAN FAILURE; MUSCLE BIOPSY; MUTAGENESIS; NEWBORN; OXYGEN DESATURATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEINURIA; RECURRENCE RISK; REVIEW; SKIN BIOPSY; AMINOACIDURIA; ANALOGS AND DERIVATIVES; ATAXIA; BLOOD; CONSANGUINITY; DEFICIENCY; DNA SEQUENCE; ENZYMOLOGY; FATALITY; GENE EXPRESSION; GENETICS; INTELLECTUAL IMPAIRMENT; MITOCHONDRIAL DISEASES; MUSCLE MITOCHONDRION; MUSCLE WEAKNESS; PATHOLOGY; POINT MUTATION; SKELETAL MUSCLE;

ACIDOSIS, LACTIC; ALKYL AND ARYL TRANSFERASES; ATAXIA; CONSANGUINITY; FATAL OUTCOME; FEMALE; GENE EXPRESSION; HEPATIC INSUFFICIENCY; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUSCLE, SKELETAL; POINT MUTATION; PROTEINURIA; RENAL AMINOACIDURIAS; SEQUENCE ANALYSIS, DNA; UBIQUINONE;

EID: 84939266277     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.277     Document Type: Review

References (20)

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