TY  - GEN
AU  - Al-Haggar,Mohammad
AU  - Largiadèr,Carlo R
AU  - Abdel-Hady,Dina
AU  - Barakat,Tarik
AU  - Nuoffer,Jean-Marc
AU  - Al-Refaei,Abdel-Aziz
TI  - Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier
SN  - 1879-3479
PY  - 2014///0829
KW  - Ammonia
KW  - blood
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Ornithine Carbamoyltransferase Deficiency Disease
KW  - diagnosis
KW  - Sequence Analysis, DNA
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ijgo.2013.09.014
ER  -