- Glycogen Storage Disease Type II: A Case Report
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Moon JL, Kang SY, Yang SH, Choe SJ, Lee YS
- KMID: 2174941
- J Korean Acad Rehabil Med.
- 1997 Dec;21(6):1224-1230.
Glycogen Storage Disease Type II is caused by the deficiency of acid maltase resulting in lysosomal accumulation of glycogen. There are two major clinical syndromes, a severe generalized and invariable... -
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- Juvenile Pompe Disease with CNS Involvement: A Case Report
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Kwon T, Lee SY
- KMID: 1928128
- Korean J Leg Med.
- 2003 May;27(1):92-95.
Pompe disease (Glycogenosis type 2) is an autosomal recessive glycogen storage disorder by deficiency of lysosomal acid alpha-glucosidase. The disorder encompasses a range of phenotypes, each including myopathy but differing... -
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- General Anesthesia in a Patient with Infantile Pompe's Disease : A case report
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Lee YJ, Chung WS, Lee JH, Son SC
- KMID: 1741475
- Anesth Pain Med.
- 2006 Oct;1(2):124-128.
Pompe's disease (type II glycogen storage disease) is an autosomalrecessive disorder caused by a deficiency of lysosomal acid alpha- glucosidase (GAA) leading to the accumulation of glycogen in the lysosomes... -
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- A Case of Glycogen Storage Disease Type IIa
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Kim YH, Chung SY, Kim JW, Whang KT, Chi JG
- KMID: 1686398
- J Korean Neurol Assoc.
- 1992 Dec;10(4):559-565.
We experienced a case of glycogen storage disease(type Iia) in a 11 months old girl who was admitted to Pediatric service of Kangnam St. Mary's hospital for work-up of flaccidity... -
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- Epidural Anesthesia in a Patient with Pompe's Disease: A case report
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Kim JG, Lim SY, Shin KM, Hong SY, Choi YR
- KMID: 2240369
- Korean J Anesthesiol.
- 1996 Oct;31(4):534-539.
- doi: 10.4097/kjae.1996.31.4.534
A case report of a 19-year-old girl with the juvenile form of Pompe's disease, who underwent thoracic epidural anesthesia, is presented. Pompe's disease, glycogen storage disease type II, is an... -
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- Two Patients with Atypical Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy
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Kim EH, Ko JM, Lee BH, Kim GH, Choi JH, Yoo HW
- KMID: 1473820
- J Genet Med.
- 2009 Dec;6(2):161-165.
Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-alpha-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal... -
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- A case of pompe disease associated with wpw syndrome
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Chun WS, Park MS, Oh SW, Ko CJ, Kim TS
- KMID: 1684848
- J Korean Child Neurol Soc.
- 1993 Sep;1(1):179-185.
No abstract available. -
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- Clinical Characteristics of Childhood Pompe Disease
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Cho A, Jeong GU, Lim BC, Park JY, Moon JH, Chae JH, Hwang YS, Kim KJ, Hwang H
- KMID: 1528185
- J Korean Child Neurol Soc.
- 2007 May;15(1):83-89.
PURPOSE: Pompe disease is one of the glycogen storage diseases caused by a deficiency of acid alpha-glycosidase. This enzyme defect results in lysosomal glycogen accumulation in many tissues and shows... -
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- A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation
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Kim DG, Jung K, Lee MK, Hyun IG, Lim HJ, Song HG, Chi JG
- KMID: 1421980
- J Korean Med Sci.
- 1993 Jun;8(3):221-224.
- doi: 10.3346/jkms.1993.8.3.221
We describe a case of the juvenile form of Pompe's disease that presented as primary alveolar hypoventilation due to respiratory muscle involvement. This 17-year-old girl had been asymptomatic until this... -
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- Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center
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Kim MS, Song A, Im M, Huh J, Kang IS, Song J, Yang A, Kim J, Kwon EK, Choi EJ, Han SJ, Park HD, Cho SY, Jin DK
- KMID: 2452034
- Korean J Pediatr.
- 2019 Jun;62(6):224-234.
- doi: 10.3345/kjp.2018.06968
PURPOSE: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before... -
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- Clinical improvement in a case of atypical infantile onset Pompe disease with enzyme replacement therapy
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Jeon YH, Eun BL, Son CS, Lee DH
- KMID: 2278734
- Korean J Pediatr.
- 2007 Feb;50(2):213-217.
- doi: 10.3345/kjp.2007.50.2.213
Pompe disease is a genetic disorder caused by a deficiency of acid alpha-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months... -
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- Evaluation of the Urinary Glucose Tetrasaccharide Assay Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry for Diagnosis of Pompe Disease
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Nam Y, Lee K, Jun SH, Park KU, Song SH, Park HD, Song J
- KMID: 2046383
- Lab Med Online.
- 2015 Oct;5(4):211-214.
- doi: 10.3343/lmo.2015.5.4.211
We evaluated the urinary glucose tetrasaccharide (Glc4) assay using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The calibration curve was linear over a range of 5-500 micromol/L. Performance parameters such as... -
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