- Measurement of Succinylacetone Using HPLC-Tandem Mass Spectrometry and Establishment of a Cut-off Value
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Jun SH, Seo JD, Lee K, Song J
- KMID: 2437181
- J Lab Med Qual Assur.
- 2018 Sep;40(3):149-154.
- doi: 10.15263/jlmqa.2018.40.3.149
BACKGROUND: Newborn screening of tyrosinemia type 1 is important for identifying infants at risk for developing this disease before life-threatening symptoms occur. It is difficult to differentiate between tyrosinemia type... -
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- The etiologies of neonatal cholestasis
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Ko JS, Seo JK
- KMID: 2140811
- Korean J Pediatr.
- 2007 Sep;50(9):835-840.
- doi: 10.3345/kjp.2007.50.9.835
Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical... -
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- Two Cases of Acute Form of Tyrosinemia Type I
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Kim KT, Kim YM, Park SE, Nam SO, Park JH
- KMID: 2335572
- J Korean Pediatr Soc.
- 2002 Jan;45(1):131-136.
Tyrosinemia type I is an autosomal recessive disorder of amino acid metabolism and is caused by a deficiency of fumarylacetoacetate hydrolase(FAH), the last enzyme in the catabolic pathway of tyrosine.... -
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- A Case of Tyrosinemia Type 1 with Cytomegalovirus Infection
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Cho JH, Shim KJ, Kim SK, Shin SH, Lee KH, Yun HS
- KMID: 2140987
- Korean J Pediatr.
- 2004 Jan;47(1):111-114.
Tyrosinemia type 1 is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation in the gene coding for the enzyme fumarylacetoacetate hydrolase(FAH). As a result, maleylacetoacetate(MAA) and... -
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- Organic acidemias in Korea
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Lee HJ
- KMID: 2168073
- Hanyang Med Rev.
- 2005 Aug;25(3):49-64.
Since we started organic acid analysis in July 1997, we have collected data about organic acidemias in Korea. The data presented herein constitute our 3 years experience in organic acid... -
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- Acute Tyrosinemia Type 1 in a 5 Month Old Korean Boy
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Hahn SH, Pai KS, Lee KB, Park KH, Kim OH, Hong CH, Eun BL, Yamaguchi
- KMID: 2208243
- J Korean Pediatr Soc.
- 1996 Jun;39(6):866-872.
Tyrosinemia type 1 is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase(FAH). The disease is characterized by hepatic dysfuntion, hepatocellular carcinomas, renal tubular dysfunction, rickets, and... -
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