Support your local paediatric neurophysiologist

Developmental Medicine and Child Neurology

Volumn 54, Issue 12, 2012, Pages 1164-1164

  Pitt, Matthew ^a  

^a Great Ormond Street Hospital NHS Trust ^*  (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

RIBOFLAVIN;

BROWN SYNDROME; BULBAR PARALYSIS; DISEASE COURSE; DRUG MEGADOSE; EARLY DIAGNOSIS; ELECTROMYOGRAPHY; GENETIC SCREENING; HUMAN; INNERVATION; LETTER; MEDICAL SPECIALIST; NEUROLOGY; NEUROPHYSIOLOGY; PEDIATRIC NEUROPHYSIOLOGIST; PRIORITY JOURNAL; PROGNOSIS; TONGUE FASCICULATION; WASTING SYNDROME;

BULBAR PALSY, PROGRESSIVE; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; RIBOFLAVIN; VITAMIN B COMPLEX;

EID: 84869210963     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12004     Document Type: Letter

References (4)

1. Koy A, Pillekamp F, Hoehn T, et al.Brown-Vialetto-Van laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. Pediatr Neurol 2012; 46: 407-09.
2. Spagnoli C, De Sousa C. Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. Dev Med Child Neurol 2012; 54: 292-93.
3. Bosch AM, Abeling NG, Ijlst L, et al.Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 2011; 34: 159-64.
4. Anand G, Hasan N, Jayapal S, et al.Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Dev Med Child Neurol 2012; 54: 187-89.