Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid

Journal of Medical Genetics

Volumn 52, Issue 11, 2015, Pages 779-783

  Freyer, Christoph ^a,b   Stranneheim, Henrik ^a,c   Naess, Karin ^a,c   Mourier, Arnaud ^b   Felser, Andrea ^c   Maffezzini, Camilla ^b   Lesko, Nicole ^a,c   Bruhn, Helene ^a,c   Engvall, Martin ^a,c   Wibom, Rolf ^a,c   Barbaro, Michela ^a,c   Hinze, Yvonne ^b   Magnusson, Måns ^c   Andeer, Robin ^c   Zetterström, Rolf H ^a,c   Von Döbeln, Ulrika ^a,c   Wredenberg, Anna ^a,b   Wedell, Anna ^a,b,c  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b MAX PLANCK INSTITUTE FOR BIOLOGY OF AGEING   (Germany)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

BETA RESORCYLIC ACID; UBIDECARENONE; UBIQUINONE; BETA-RESORCYLIC ACID; HYDROXYBENZOIC ACID DERIVATIVE; UBIQUINONE 7;

ARTICLE; CHILD; CLINICAL FEATURE; COENZYME Q10 DEFICIENCY; CONTROLLED STUDY; COQ7 GENE; DRUG EFFECT; EXOME; FIBROBLAST; GENE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; METABOLIC DISORDER; MISSENSE MUTATION; MITOCHONDRIAL RESPIRATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; PRIORITY JOURNAL; AMINO ACID SEQUENCE; ATAXIA; CASE REPORT; DEFICIENCY; DNA MUTATIONAL ANALYSIS; GENETICS; HOMOZYGOTE; METABOLISM; MITOCHONDRIAL DISEASES; MITOCHONDRION; MOLECULAR GENETICS; MUSCLE WEAKNESS; NEWBORN; SEQUENCE ALIGNMENT; TANDEM MASS SPECTROMETRY;

AMINO ACID SEQUENCE; ATAXIA; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, LIQUID; DNA MUTATIONAL ANALYSIS; EXOME; HOMOZYGOTE; HUMANS; HYDROXYBENZOATES; INFANT, NEWBORN; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUSCLE WEAKNESS; MUTATION, MISSENSE; SEQUENCE ALIGNMENT; TANDEM MASS SPECTROMETRY; UBIQUINONE;

EID: 84954361939     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-102986     Document Type: Article

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