The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: Natural history, genetics, treatment and future perspectives

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Bosch, Annet M ^a   Stroek, Kevin ^a   Abeling, Nico G ^a   Waterham, Hans R ^a   Ijlst, Lodewijk ^a   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Brown Vialetto Van Laere syndrome; Fazio Londe syndrome; Riboflavin supplementation; Riboflavin transporter

Indexed keywords

ACYLCARNITINE; ADENINE; CYTOSINE; GUANINE; QUERCETIN; RIBOFLAVIN; THYMINE;

ARTIFICIAL VENTILATION; BROWN VIALETTO VAN LAERE SYNDROME; BULBAR PARALYSIS; DISEASE ASSOCIATION; DISEASE COURSE; DRUG WITHDRAWAL; FAZIO LONDE DISEASE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; HEARING IMPAIRMENT; HISTORY OF MEDICINE; HUMAN; MEDLINE; MENTAL DEFICIENCY; MISSENSE MUTATION; MORTALITY; MOTOR PERFORMANCE; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NONINVASIVE VENTILATION; NONSENSE MUTATION; PUBLICATION; RESPIRATORY FAILURE; RESPIRATORY TRACT DISEASE; REVIEW; RIBOFLAVIN DEFICIENCY; SLC52A1 GENE; SLC52A2 GENE; SLC52A3 GENE; SURVIVAL; TRACHEOSTOMY; UNSPECIFIED SIDE EFFECT; VITAMIN SUPPLEMENTATION;

BULBAR PALSY, PROGRESSIVE; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; RIBOFLAVIN;

EID: 84867895629     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-83     Document Type: Review

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