Buccal swab analysis of mitochondrial enzyme deficiency and DNA defects in a child with suspected Myoclonic Epilepsy and Ragged Red Fibers (MERRF)

Journal of Child Neurology

Volumn 27, Issue 3, 2012, Pages 398-401

  Yorns, William R ^a   Valencia, Ignacio ^a   Jayaraman, Aditya ^a   Sheth, Sudip ^a   Legido, Agustin ^a   Goldenthal, Michael J ^a  

^a DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

buccal; mitochondrial; myoclonic epilepsy and ragged red fibers (MERRF)

Indexed keywords

ALPHA LEVO FUCOSIDASE; ALPHA MANNOSIDASE; BETA GALACTOSIDASE; BETA MANNOSIDASE; CEREBROSIDE SULFATASE;

ADULT; ARTICLE; CASE REPORT; CHEEK; CHILD; CHILDHOOD DISEASE; COGNITION; CONTROLLED STUDY; ELECTROENCEPHALOGRAPHY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; FAMILY HISTORY; FEMALE; HUMAN; HUMAN TISSUE; MERRF SYNDROME; MITOCHONDRION; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; SLEEP APNEA SYNDROME; SMEAR;

CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MERRF SYNDROME; MOUTH MUCOSA;

EID: 84858653227     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811420870     Document Type: Article

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