Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

Molecular Genetics and Metabolism

Volumn 105, Issue 3, 2012, Pages 457-462

  Goldenthal, Michael J ^a,b   Kuruvilla, Teddy ^b   Damle, Shirish ^b   Salganicoff, Leon ^b   Sheth, Sudip ^b   Shah, Nidhi ^b   Marks, Harold ^a,b   Khurana, Divya ^a   Valencia, Ignacio ^a   Legido, Agustin ^a  

^a ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Buccal swab; Mitochondrial disease; Respiratory chain

Indexed keywords

CITRATE SYNTHASE; FRATAXIN;

ADOLESCENT; ADULT; ARTICLE; CHEEK; CHILD; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUSCLE BIOPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SCHOOL CHILD; SKELETAL MUSCLE; SMEAR;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CITRATE (SI)-SYNTHASE; COHORT STUDIES; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; IRON-BINDING PROTEINS; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DISEASES; MOUTH MUCOSA; MUSCLE, SKELETAL; OXIDATIVE PHOSPHORYLATION; YOUNG ADULT;

EID: 84858288467     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.11.193     Document Type: Article

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