TY - JOUR
T1 - Novel mutation in an Indian patient with methylmalonic acidemia, cbIA type
AU - Girisha, Katta Mohan
AU - Shrikiran, Aroor
AU - Bidchol, Abdul Mueed
AU - Sakamoto, Osamu
AU - Gopinath, Puthiya Mundyat
AU - Satyamoorthy, Kapaettu
PY - 2012/9
Y1 - 2012/9
N2 - We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.
AB - We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.
UR - http://www.scopus.com/inward/record.url?scp=84875734423&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84875734423&partnerID=8YFLogxK
U2 - 10.4103/0971-6866.108025
DO - 10.4103/0971-6866.108025
M3 - Article
AN - SCOPUS:84875734423
SN - 0971-6866
VL - 18
SP - 346
EP - 348
JO - Indian Journal of Human Genetics
JF - Indian Journal of Human Genetics
IS - 3
ER -