TY - JOUR
T1 - Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency
AU - Wolf, Barry
AU - Spencer, Robert
AU - Gleason, Tucker
N1 - Funding Information:
Supported in part by National Institutes of Health (grant No. DK3384) and the Safra Research Fund at Connecticut Children's Medical Center.
PY - 2002
Y1 - 2002
N2 - Sensorineural hearing loss occurs in approximately 75% of symptomatic children with profound biotinidase deficiency, which is more common than originally thought. The hearing loss varies in severity and is usually irreversible. The biochemical, genotype, and clinical variations do not correlate with the development of hearing loss. Thus, it is very important to diagnose the disorder early, especially by newborn screening, to prevent the hearing loss.
AB - Sensorineural hearing loss occurs in approximately 75% of symptomatic children with profound biotinidase deficiency, which is more common than originally thought. The hearing loss varies in severity and is usually irreversible. The biochemical, genotype, and clinical variations do not correlate with the development of hearing loss. Thus, it is very important to diagnose the disorder early, especially by newborn screening, to prevent the hearing loss.
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U2 - 10.1067/mpd.2002.121938
DO - 10.1067/mpd.2002.121938
M3 - Article
C2 - 11865279
AN - SCOPUS:0036185783
SN - 0022-3476
VL - 140
SP - 242
EP - 246
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 2
ER -