We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656526PMC
http://dx.doi.org/10.4103/0971-6866.108025DOI Listing

Publication Analysis

Top Keywords

methylmalonic acidemia
8
acidemia cbla
8
cbla type
8
novel mutation
4
mutation indian
4
indian patient
4
patient methylmalonic
4
type report
4
report girl
4
girl methylmalonic
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!