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Novel Compound Heterozygote Mutations of the SLC25A13 Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening.
Ho Seop Lim, Ho Kim, Sung Shin Kim, Gu Hwan Kim, Han Wook Yoo, Young Lim Shin
Neonatal Med.
2011;18(2):370-373. Published online November 25, 2011
DOI:
https://doi.org/10.5385/jksn.2011.18.2.370
Cited By 1
PDF
A Novel Argininosuccinate Synthetase Gene Mutation in a Korean Family with Type I Citrullinemia.
Byoung Whan Ahn, Hyun Jeung Kim, Hyung Doo Park, Won Duck Kim
Neonatal Med.
2010;17(2):250-253. Published online November 15, 2010
DOI:
https://doi.org/10.5385/jksn.2010.17.2.250
Cited By 4
PDF
A Case of Citrullinemia Controlled by Diet and Arginine.
Eun Young Jeong, Seong Sook Jeon, Son Sang Seo
Neonatal Med.
1999;6(2):280-280. Published online January 1, 2001
PDF
A Case of Citrullinemia
Byung Ju Park, M.D., Dong Hee Lee, M.D., Jung hye Choi, M.D. and Wha Ryung Chung, M.D.*
Neonatal Med.
1995;2(2):248-252.
PDF
1
ABOUT
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