- Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy
-
Cho SY, Kim S, Chung SK
- KMID: 2466189
- J Korean Ophthalmol Soc.
- 2019 Dec;60(12):1318-1322.
- doi: 10.3341/jkos.2019.60.12.1318
PURPOSE: To report a case of bilateral corneal opacities and rare spinal muscular atrophy type III (Kugelberg-Welander disease) in a galactokinase-deficiency patient. CASE SUMMARY: A 6-year-old female presented with bilateral ground... -
- CITED
-
- Close
- SHARE
-
- Close
- Galactosemia
-
Yang SH
- KMID: 2168071
- Hanyang Med Rev.
- 2005 Aug;25(3):37-41.
Galactosemia, a term that denotes the presence of galactose in the blood, is the name of rare inborn error of galactose metabolism due to a deficiency of the enzyme galactokinase... -
- CITED
-
- Close
- SHARE
-
- Close
- Intrahepatic Arterio-Venous Shunts in a Patient with Hypergalactosemia Detected by Neonatal Screening
-
Hong JH, Um JP, Cha BH, Lim BK, Kim JS
- KMID: 2188642
- J Korean Soc Neonatol.
- 2004 May;11(1):87-92.
We report a case of 15 days old newborn presenting with hypergalactosemia detected by newborn screening who had intrahepatic arterio-venous shunts with multiple pin-head sized cutaneous hemangiomas. Plasma level of... -
- CITED
-
- Close
- SHARE
-
- Close
- Galactosemia Detected by Neonatal Screening Test
-
Park IS, Cho HJ, Lee DH, Song JH
- KMID: 2335722
- J Korean Pediatr Soc.
- 2003 May;46(5):440-446.
PURPOSE: The genetic disturbance of galactosemia is expressed as a cellular deficiency of either galactose-1-phosphate uridyltransferase(GALT) or galactokinase(GALK) or UDP galactose 4-epimerase(GALE). To find-out the pattern of galactosemia in Korea,... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Infantile Hepatic Hemangioendothelioma Incidentally Detected during the Evaluation of Galactosemia
-
Lim RK, Byun SY, Park SS, Kim YD
- KMID: 2144479
- J Korean Soc Neonatol.
- 2010 May;17(1):136-140.
Galactosemia is a group of inherited enzyme deficiencies characterized by increase in the blood galactose levels. This condition may be associated with deficiencies of galactose-1-phosphate uridyl transferase, galactokinase, or uridine... -
- CITED
-
- Close
- SHARE
-
- Close
- A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening
-
Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, Lee SY, Kim JW
- KMID: 2373595
- Ann Lab Med.
- 2016 Nov;36(6):561-572.
- doi: 10.3343/alm.2016.36.6.561
BACKGROUND: A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the... -
- CITED
-
- Close
- SHARE
-
- Close
