- 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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- A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement
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Kim JB, Yoo HW
- KMID: 2335389
- J Korean Pediatr Soc.
- 1998 Nov;41(11):1590-1595.
Type 1 Gaucher disease is one of the most common genetic lysosomal storage disease caused by the deficiency of glucocerobrosidase. Deficiency of this enzyme results in accumulation of glucoceramide in... -
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- Treatment and management of patients with inherited metabolic diseases
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Lee JS
- KMID: 2280061
- Korean J Pediatr.
- 2006 Nov;49(11):1152-1157.
- doi: 10.3345/kjp.2006.49.11.1152
Inherited metabolic disease is rare disorders that show symptoms mainly in pediatric age and early treatment is important for preventing complications of the disease. Recent development in molecular and biochemical... -
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- Two cases of Fabry disease identified in brothers
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Cho JE, Hong YH, Lee YG, Yoo HW, Lee DH
- KMID: 2281372
- Korean J Pediatr.
- 2010 Feb;53(2):235-238.
- doi: 10.3345/kjp.2010.53.2.235
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the alpha-galactosidase A (GLA) enzyme. We report two cases of Fabry... -
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- Medical Treatment of Chronic Pancreatitis
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Yoo KS
- KMID: 2263494
- Korean J Med.
- 2012 Jul;83(1):18-28.
Chronic pancreatitis is an inflammatory disease characterized by the progressive destruction of pancreatic tissue and resulting in pancreatic exocrine and endocrine insufficiency. Although a lot of efforts have been made... -
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- Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures
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Sohn YB, Yoo HW
- KMID: 2369021
- J Genet Med.
- 2016 Dec;13(2):59-64.
- doi: 10.5734/JGM.2016.13.2.59
Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by deficiency of acid β-glucosidase. The diminished enzyme activity leads to the accumulation of substrates and results in... -
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- Recent Advances in Management of Chronic Pancreatitis
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Park SM
- KMID: 2373329
- Korean J Gastroenterol.
- 2015 Sep;66(3):144-149.
- doi: 10.4166/kjg.2015.66.3.144
Treatment for chronic pancreatitis (CP) should be started early to prevent further pancreatic fibrosis and managed with a multidisciplinary approach to prevent complications and to maintain a good quality of... -
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- Mucopolysaccharidosis and mucolipidosis
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Chang SH, Song SM, Sohn WY, Jin DK
- KMID: 2168070
- Hanyang Med Rev.
- 2005 Aug;25(3):27-36.
Mucopolysaccharidosis (MPS) and mucolipidosis(ML) belong to a group of rare genetic disorders of lysosomal enzymes and share some clinical manifestations. MPS is characterized by the accumulation of glycosaminoglycans (GAG) and... -
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- Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)
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Cho SY, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Kim SJ, Sohn YB, Park SW, Kwon EK, Han SJ, Jung J, Jin DK
- KMID: 1789984
- J Korean Med Sci.
- 2014 Feb;29(2):254-260.
- doi: 10.3346/jkms.2014.29.2.254
Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme... -
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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 allogeneic bone marrow transplantation in Gaucher's disease type III and recovery of enzyme activity documented by Fluorescence-Activated Cell Sorter (FACS) analysis
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Kim DK, Kim HS, Yoo SY, Jeong CK, Park JS, Ha MJ, Kim HJ, Kim HC
- KMID: 1601340
- Korean J Med.
- 2001 Aug;61(2):195-200.
Gaucher's disease (GD) is the most common inherited lysosomal storage disease, manifested by generalized accumulation of glucocerebroside in macrophages of the reticuloendothelial system due to a deficient lysosomal beta-glucocerebrosidase (GC).... -
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- Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs)
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Sohn WY, Lee JH, Paik KH, Kwon EK, Kim AH, Jin DK
- KMID: 2279075
- Korean J Pediatr.
- 2005 Oct;48(10):1132-1138.
PURPOSE: The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is... -
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- Pancreatitis
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Kim CD
- KMID: 2183066
- J Korean Med Assoc.
- 2003 Jan;46(1):56-66.
- doi: 10.5124/jkma.2003.46.1.56
Pancreatic inflammatory disease may be classified as acute pancreatitis(AP) and chronic pancreatitis(CP) by primarily clinical criteria, with the obvious difference between them being restoration of normal function in the former... -
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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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- Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
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Park KB, Han KR, Lee JW, Kim SH, Kim DW, Kim C, Ko JM
- KMID: 1767885
- Korean J Pain.
- 2010 Sep;23(3):207-210.
- doi: 10.3344/kjp.2010.23.3.207
Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease... -
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- A Case of Fabry Disease, Pathologically Revealed as Focal Segmental Glomerulosclerosis
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Joo HR, Sohn SH, Nam HK, An WS, Kim SE, Kim KH, Rha SH
- KMID: 2079754
- Korean J Nephrol.
- 2007 Jul;26(4):469-474.
Fabry disease is an X-linked recessive lysosomal storage disease that is caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. This deficiency results in progressive lysosomal accumulation of glycosphingolipid... -
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- Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the alpha-Galactosidase A Gene and Kidney Biopsy
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Yoon KT, Jang YH, Lee SH, Lee JH, Yang JO, Lee EY, Hong SY
- KMID: 2268960
- Korean J Med.
- 2015 Nov;89(5):571-575.
- doi: 10.3904/kjm.2015.89.5.571
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, which results in the intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with progressive renal,... -
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- Substrate reduction therapy in three patients with Gaucher disease
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Kim SH, Kang E, Kim YM, Kim GH, Choi IH, Choi JH, Yoo HW, Lee BH
- KMID: 2369023
- J Genet Med.
- 2016 Dec;13(2):72-77.
- doi: 10.5734/JGM.2016.13.2.72
PURPOSE: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat (Zavesca®) was approved for the treatment of adults... -
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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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- 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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