Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features

European Journal of Paediatric Neurology

Volumn 18, Issue 2, 2014, Pages 231-234

  Spagnoli, Carlotta ^a   Pitt, Matthew C ^a   Rahman, Shamima ^a,b   De Sousa, Carlos ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Brown Vialetto van Laere syndrome; Coarse face; DTI; hRFT2; Kinky hair; Riboflavin; SLC52A3

Indexed keywords

ACYLCARNITINE; CARBOXYLIC ACID; CITRATE SYNTHASE; CYTOCHROME C OXIDASE; IMMUNOGLOBULIN; RIBOFLAVIN; UBIDECARENONE;

ANTERIOR HORN CELL; ARTICLE; ASSISTED VENTILATION; ATELECTASIS; BROWN VIALETTO VAN LAERE SYNDROME; BULBAR PARALYSIS; CASE REPORT; CERVICAL SPINAL CORD; CHEST INFECTION; COARSE FACE; CRANIAL NERVE; DIAPHRAGM PARALYSIS; ELECTROMYOGRAPHY; ENZYME ACTIVITY; EVOKED BRAIN STEM AUDITORY RESPONSE; FASCICULATION; FEEDING DIFFICULTY; FEMALE; FRAMESHIFT MUTATION; GASTROSTOMY; GENETIC SCREENING; HAIR DISEASE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; INFANT; INFANT DISEASE; LIPID BLOOD LEVEL; MISSENSE MUTATION; MOTONEURON; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE DENERVATION; MUSCLE HYPOTONIA; MUSCLE STRENGTH; MUSCLE WEAKNESS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGICAL RECRUITMENT; NEUROPHYSIOLOGY; NEWBORN INTENSIVE CARE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PTOSIS; RESPIRATORY FAILURE; RIBOFLAVIN DEFICIENCY; SEIZURE; TENDON REFLEX; TRACHEOSTOMY; URINE LEVEL; WALKER;

BROWN-VIALETTO-VAN LAERE SYNDROME; COARSE FACE; DTI; HRFT2; KINKY HAIR; RIBOFLAVIN; SLC52A3;

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

EID: 84895147475     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2013.09.006     Document Type: Article

References (6)

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