Neonatal Medicine


Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease.: Ye Jee Byun, Hyun Jeong Do, Seong Hee Oh, Chong Jai Kim, Beom Hee Lee, Gu Hwan Kim, Byoung Sop Lee, Ki Soo Kim, Ai Rhan Kim; Neonatal Med. 2015;22(4):217-222. Published online November 30, 2015; DOI: https://doi.org/10.5385/nm.2015.22.4.217
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Haddad Syndrome with a Germ-Line Mutation in the PHOX2B Gene in a Korean Neonate.: Chunglyul Baek, Ji Mi Jung, Yun Jung Lim, Ki Hoon Kim, Han Wook Yu, Gu Hwan Kim, Mi Lim Chung; Neonatal Med. 2015;22(3):162-167. Published online August 31, 2015; DOI: https://doi.org/10.5385/nm.2015.22.3.162
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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
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