- A Case of Homocystinuria with Ectopia Lentis
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Chung DY, Chung YT
- KMID: 2122983
- J Korean Ophthalmol Soc.
- 1991 Jan;32(1):110-115.
Homocystinuria is an inborn error on the pathway of the methionine metabolism. It is mainly caused by a cystathionine B-synthase deficiency in the brain or liver. Homocystinuria is biochemically characterized... -
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- A case of homocystinuria
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Park KS, Choi KS, Jang YT, Lee HC, Lee CH
- KMID: 1691839
- J Korean Pediatr Soc.
- 1991 Apr;34(4):566-572.
No abstract available. -
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- A Case of Homocystinuria Complicated with Systemic Deep Vein Thrombosis and Venous Infarction of Thalamus
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Kang JH, Koo NH, Kim SH, Cho JH, Kim SY
- KMID: 2177057
- J Korean Child Neurol Soc.
- 2002 Nov;10(2):344-350.
Homocystinuria is an autosomal recessive inherited disorder of methionine metabolism. The most common cause of homocystinuria is cystathione-beta-synthase deficiency, which has the characteristic clinical features such as ectopia lentis, Marfanoid... -
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- Two Cases of Isolated Hypermethioninemia Found by Neonatal Mass Metabolic Screening Tests
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Choi TY, Kim WB, Lee DH
- KMID: 2300529
- Korean J Clin Pathol.
- 1998 Dec;18(4):546-549.
The neonatal screening test for homocystinuria has mostly measured methionine by use of dried blood specimen. Isolated hypermethioninemia, clinically benign metabolic disorder associated with the deficiency of methionine adenosyl transferase... -
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- Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years
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Oh SJ, Hong YH, Lee YW, Lee DH
- KMID: 2281313
- Korean J Pediatr.
- 2010 Mar;53(3):329-334.
- doi: 10.3345/kjp.2010.53.3.329
PURPOSE: The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia... -
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- A Cost-Benefit Analysis of Neonatal Screening Tests for Maple Syrup Urine Disease, Homocystinuria, Galactosemia, and Congenital Adrenal Hyperplasia
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Park SY, Kim DI, Lee DH
- KMID: 2184455
- J Genet Med.
- 2008 Dec;5(2):111-118.
PURPOSE: Neonatal screening tests are increasingly being used forearly diagnosis of inborn errors of metabolism (IEM) in the hope of avoiding the severe developmental delay, acute illness, and death that... -
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- A patient with homocystinuria complicated by superior sagittal sinus thrombosis: A case report
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Koo J, Yoon BW, Kim S
- KMID: 2066113
- J Korean Neurol Assoc.
- 1997 Dec;15(6):1271-1279.
Homocystinuria is an inborn error of methionine metabolism and has several causes. Among the causes, cystathionine-b-synthase deficiency is the most common. The major clinical manifestations are ectopia lectis skeletal deformities,... -
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- Modified Capsular Tension Ring Scleral Fixation and Toric Intraocular Lens Implantation in a Patient with Homocystinuria
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Park DH, Chung JK
- KMID: 2215715
- J Korean Ophthalmol Soc.
- 2015 Apr;56(4):614-619.
- doi: 10.3341/jkos.2015.56.4.614
PURPOSE: Purpose: To report a case of modified capsular tension ring scleral fixation and in-the-bag toric intraocular lens (IOL) implantation in a pediatric patient with severe crystalline lens subluxation due... -
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- Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria
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Park ES, Oh HJ, Kruger WD, Jung SC, Lee JS
- KMID: 1115943
- Exp Mol Med.
- 2006 Dec;38(6):652-661.
Homocystinuria is a metabolic disorder caused by a deficiency of cystathionine b-synthase (CBS). The major clinical symptoms of this disease are mental retardation, lens dislocation, vascular disease with life-threatening thromboembolisms,... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (1997)
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Kim JW, Min WK, Kim JU, Kim UL, Kwon KC, Park SS, Choi TY
- KMID: 2135522
- J Clin Pathol Qual Control.
- 1998 Jun;20(1):137-146.
Single trial of external quality assessment for inborn error of metabolism was performed in 1997. A total six specimens among seven of QC materials for neonatal screening test was distributed... -
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- Amino acid metabolism disorders
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Lee DH
- KMID: 2168074
- Hanyang Med Rev.
- 2005 Aug;25(3):65-78.
Deficiencies of enzymes involved in amino acid metabolism frequently result in accumulation of toxic substances and subsequent organ damage. The brain, liver and kidneys are the most frequently affected organs.... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (1998)
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Kim JW, Kwon KC, Kim CH, Min WK, Park SY, Baik BY, Song JH, Lee SY, Lee EH, Choi TY
- KMID: 2055388
- J Clin Pathol Qual Control.
- 1999 Jun;21(1):143-146.
Second trial of external quality assessment for inborn error of metabolism was performed in 1998. A total six specimens for neonatal screening test were distributed to 57 laboratories with a... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (1999)
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Kim J, Kwon K, Kim C, Min W, Park S, Han T, Song J, Lee S, Lee E, Choi T
- KMID: 1561314
- J Clin Pathol Qual Control.
- 2000 Jun;22(1):139-152.
Two trials of external quality assessment for inborn error of metabolism was performed in 1999. In Trial 1, 6 specimens for neonatal screening test were distributed to 56 laboratories with... -
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- Newborn screening of inherited metabolic disease in Korea
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Lee DH
- KMID: 2280059
- Korean J Pediatr.
- 2006 Nov;49(11):1125-1139.
- doi: 10.3345/kjp.2006.49.11.1125
In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for... -
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- Report on the External Quality Assessment Scheme for Metabolite Testing in Korea (2016–2017)
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Lee SY
- KMID: 2437180
- J Lab Med Qual Assur.
- 2018 Sep;40(3):136-148.
- doi: 10.15263/jlmqa.2018.40.3.136
External quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as extended newborn screening... -
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- Nephrotic Syndrome in Venous Thrombosis
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Jung SI, Choi SY, Whang CW
- KMID: 2040457
- J Korean Vasc Surg Soc.
- 1997 Jun;13(1):59-66.
The overall incidence per year of deep vein thrombosis is about one per thousand in western, but may be much higher in the presence of certain clinical risk factors such... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2005)
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Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY
- KMID: 2200712
- J Lab Med Qual Assur.
- 2006 Jun;28(1):135-152.
The trial of external quality assessment for inborn error of metabolism was performed in 2005. Total 11 specimens for the conventional newborn screening tests were distributed to 47 laboratories. The... -
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- Annual Report on External Quality Assessment of Biochemical Genetics in Korea (2013)
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Lee SY, Biochemical Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory
- KMID: 2200442
- J Lab Med Qual Assur.
- 2014 Jun;36(2):64-70.
Two trials of external quality assessment (EQA) of conventional newborn screening tests for phenylketonuria, galactosaemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as of... -
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- Analysis of Major Factors Affecting False Positive Results in Neonatal Screening Test within 3 Days after Birth
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Kim TK, Lee SH, Yu ST, Oh YK
- KMID: 2460029
- Perinatology.
- 2019 Sep;30(3):154-159.
- doi: 10.14734/PN.2019.30.3.154
OBJECTIVE: We examined the factors affecting the false positive results in the accidental neonatal screening test (NST) within 3 days after birth and tried to find out the most relevant... -
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- Age and Gender Specific Reference Value of Total Plasma Homocysteine
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Lee KO, Ryoo KS, Lee KP
- KMID: 2055391
- J Clin Pathol Qual Control.
- 1999 Jun;21(1):167-173.
BACKGROUND: The diagnostic value of total Homocysteine (Hcy) determination is well documented in several clinical conditions, such as diagnosing individuals with potentially increased risk factors for coronary artery disease, a... -
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