Severe neonatal presentation of mitochondrial citrate carrier (SLC25A1) deficiency

JIMD Reports

Volumn 30, Issue , 2016, Pages 73-79

  Smith, Amanda ^a,b   McBride, Skye ^a   Marcadier, Julien L ^b   Michaud, Jean ^b   Al Dirbashi, Osama Y ^b   Schwartzentruber, Jeremy ^c   Beaulieu, Chandree L ^b   Katz, Sherri L ^a,b   Majewski, Jacek ^c   Bulman, Dennis E ^b   Geraghty, Michael T ^b   Harper, Mary Ellen ^d   Chakraborty, Pranesh ^b   Lines, Matthew A ^b  

^a OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF OTTAWA   (Canada)

Author keywords

Citrate transporter; Cytochrome c oxidase; Exome sequencing; Lactic acidosis; Mitochondrial disease; SLC25A1

Indexed keywords

EID: 85014395804     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2016_536     Document Type: Chapter

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