[Maple syrup urine disease caused by a new mutation: C.1128-1130delCinsTT]

An Pediatr (Barc). 2014 Feb;80(2):e60-1. doi: 10.1016/j.anpedi.2013.05.030. Epub 2013 Nov 22.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acids, Branched-Chain / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Maple Syrup Urine Disease / genetics*
  • Mutation*

Substances

  • Amino Acids, Branched-Chain