Brown-Vialetto-Van Laere syndrome: A riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene

Pediatric Neurology

Volumn 46, Issue 6, 2012, Pages 407-409

  Koy, Anne ^a   Pillekamp, Frank ^a   Hoehn, Thomas ^a   Waterham, Hans ^b   Klee, Dirk ^a   Mayatepek, Ertan ^a   Assmann, Birgit ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; METHYLPREDNISOLONE; RIBOFLAVIN;

APNEA; ARTICLE; ARTIFICIAL VENTILATION; BROWN VIALETTO VAN LAERE SYNDROME; BULBAR PARALYSIS; C20ORF54 GENE; CASE REPORT; CHILD; DEGENERATIVE DISEASE; DEHYDRATION; DRUG WITHDRAWAL; EVOKED BRAIN STEM AUDITORY RESPONSE; FACIAL NERVE PARALYSIS; FEMALE; FOLLOW UP; GASTROSTOMY; GENE; GENE MUTATION; HEARING AID; HUMAN; INDUCED HYPOTHERMIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; REHYDRATION; RESPIRATORY TRACT INFECTION; RESUSCITATION; RIBOFLAVIN DEFICIENCY; SWALLOWING; TENDON REFLEX; TRACHEOSTOMY; VESTIBULAR NUCLEUS;

BULBAR PALSY, PROGRESSIVE; CHILD, PRESCHOOL; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION; RIBOFLAVIN;

EID: 84861581224     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2012.03.008     Document Type: Article

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