[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]
Authors
C Ledro Carabaño
1
,
M Granero Asencio
2
,
L Bardallo Cruzado
2
,
I Alonso Rueda
2
,
P Jiménez Parrilla
2
,
M R Santano Gallinato
2
,
S Luna Lagares
2
Affiliations
1
Hospital Universitario Macarena, Sevilla, España. Electronic address: carmenciy@hotmail.com.
2
Hospital Universitario Macarena, Sevilla, España.
PMID:
24274979
DOI:
10.1016/j.anpedi.2013.05.030
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