• 제목/요약/키워드: Gyeongsang

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A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screening Program

  • Kim, Min-Ji;Cho, Jae Young;Park, Ji Sook;Park, Eun Sil;Seo, Ji-Hyun;Lim, Jae-Young;Woo, Hyang-Ok;Youn, Hee-Shang
    • Childhood Kidney Diseases
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    • 제24권2호
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    • pp.131-137
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    • 2020

  • Nephrogenic diabetes insipidus (DI) is a rare disease in which the patient cannot concentrate urine despite appropriate or high secretion of antidiuretic hormone. Congenital nephrogenic DI is caused by the arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2) gene mutation; the AVPR2 genetic mutation accounts for 90% of the cases. National health screening for infants and children was launched in 2007 in order to prevent accidents and promote public health in infants and children in Korea. The program has been widely used as a primary clinical service in Korea. We treated an infant with faltering growth and delayed development detected by the National health screening program, and diagnosed the problem as nephrogenic DI caused by a rare missense mutation of c.490T>C on the AVPR2 gene. This case can be a good educational nephrogenic DI with a rare AVPR2 mutation, which was well screened and traced by the national health screening program for infants and children in Korea.

  • https://doi.org/10.3339/jkspn.2020.24.2.131 인용 PDF KSCI

A Case of Idiopathic Congenital Neonatal Cholestasis in a Patient with Down Syndrome

  • Huh, Tae-Eon;Do, Hyun Jeong;Park, Ji Sook;Yeom, Jung Sook;Park, Eun Sil;Seo, Ji Hyun;Lim, Jae Young;Park, Chan-Hoo;Woo, Hyang Ok;Youn, Hee-Shang
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제15권2호
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    • pp.117-121
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    • 2012

  • Down syndrome is a rare cause of neonatal cholestasis. Neonatal cholestasis in a patient with Down syndrome is usually associated with severe liver diseases, such as neonatal hemochromatosis, myeloproliferative disorder and intrahepatic bile duct paucity. We experienced a case of idiopathic neonatal cholestasis in a patient with Down syndrome, which resolved spontaneously.

  • https://doi.org/10.5223/kjpgn.2012.15.2.117 인용 PDF KSCI

Production of Hypoallergenic Soybean Proteins Using Three step fermentation

  • Lee, Jeong-Ok;Park, Mi-Hwa;Yu, Seon-Joo;Lee, Ju-Young;Ko, Yu-Jin;Kim, Yeong-Hoon;Jo, Jung-Suk;Choi, Soon-Yeon;Ha, Yeong-Lae;Ryu, Chung-Ho
    • 한국생명과학회:학술대회논문집
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    • 한국생명과학회 2005년도 국제학술심포지움 The 44th Annual Meeting of Korean Society for Life Science
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    • pp.223-223
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    • 2005

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