- Endocrine complications during and after adolescence in a patient with cystinosis
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Ahn MB, Kim SE, Cho WK, Jung MH, Suh BK
- KMID: 2366795
- Ann Pediatr Endocrinol Metab.
- 2016 Sep;21(3):174-178.
- doi: 10.6065/apem.2016.21.3.174
Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a... -
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- GM2 Gangliosidosis II
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Choi SY, Park JH, Lee JS, Coe CJ, Han SH, Lee EH
- KMID: 2007265
- J Korean Child Neurol Soc.
- 1999 Dec;7(2):244-249.
GM2 gangliosidosis II(Sandhoff disease) is a lysosomal storage disease due to deficiency of beta-hexosaminidase activity, transmitted by mode of autosomal recessive. Clinical features are so variable, ranging from infantile onset... -
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- A Case of Cystinosis
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Jung MH, Keun SO, Lee SJ, Lee BC
- KMID: 1606831
- J Korean Pediatr Soc.
- 2003 Jun;46(6):615-619.
Cystinosis, an autosomal recessively inherited lysosomal storage disease, results from impaired transport of the amino acid cystine out of cellular lysosomes. The consequent accumulation and crystallization of cystine destroys tissues,... -
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- A Galactosialidosis Mimicking GM1-gangliosidosis Type I
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Im SJ, Nam SO
- KMID: 2329332
- J Korean Child Neurol Soc.
- 2005 Nov;13(2):288-293.
Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and alpha-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically... -
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- Use of Tandem Mass Spectrometry for Newborn Screening of 6 Lysosomal Storage Disorders in a Korean Population
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Han M, Jun SH, Song SH, Park KU, Kim JQ, Song J
- KMID: 1781688
- Korean J Lab Med.
- 2011 Oct;31(4):250-256.
- doi: 10.3343/kjlm.2011.31.4.250
BACKGROUND: We evaluated the performance of multiplex tandem mass spectrometry (MS/MS) in newborn screening for detection of 6 lysosomal storage disorders (LSDs), namely, Niemann-Pick A/B, Krabbe, Gaucher, Fabry, and Pompe... -
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- A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease
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Kwon S, Park JS, Jung JH, Hwang SK, Kim YH, Lee YJ
- KMID: 2435970
- J Genet Med.
- 2018 Jun;15(1):28-33.
- doi: 10.5734/JGM.2018.15.1.28
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria... -
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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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- A case of Farber lipogranulomatosis
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Kim YJ, Park SJ, Park CK, Kim SH, Lee CW
- KMID: 1107235
- J Korean Med Sci.
- 1998 Feb;13(1):95-98.
- doi: 10.3346/jkms.1998.13.1.95
A 35 month old girl had suffered from painful joint contractures of the whole body since a few months after birth, and she gradually developed numerous periarticular and subcutaneous nodules,... -
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- Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
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Kim JH, Chi YH, Kim GH, Yoo HW, Lee JH
- KMID: 2362251
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S37-S40.
- doi: 10.3345/kjp.2016.59.11.S37
Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients... -
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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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- Progressive Myoclonus Epilepsy Associated with Macular Cherry-Red Spots
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Kang KS, Yun CH, Lee SK
- KMID: 2343046
- J Korean Neurol Assoc.
- 2003 Apr;21(2):204-206.
Myoclonus, generalized epilepsy, and progressive neurological decline characterize progressive myoclonus epilepsy. A 25-year-old woman was admitted for the evaluation of seizure, progressive myoclonus and ataxic gait. Her symptoms had developed... -
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- Perspectives on Next-Generation Newborn Screening
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Park KJ, Kim JW
- KMID: 2046378
- Lab Med Online.
- 2015 Oct;5(4):169-175.
- doi: 10.3343/lmo.2015.5.4.169
Newborn screening (NBS) has been effective for detecting asymptomatic newborns with inherited metabolic diseases and has facilitated early clinical intervention, which has resulted in significant decreases in the rates of... -
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- A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis
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Lee JY, Shim JO, Yang HR, Chang JY, Shin CH, Ko JS, Seo JK, Kim WS, Kang GH, Song JH, Kim JW
- KMID: 2280303
- Korean J Pediatr.
- 2008 Jun;51(6):650-654.
- doi: 10.3345/kjp.2008.51.6.650
Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation... -
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- Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease
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Lee S, Kim HJ, Jeong SY, Hwang JM
- KMID: 2216461
- J Korean Ophthalmol Soc.
- 2013 Jan;54(1):131-135.
- doi: 10.3341/jkos.2013.54.1.131
PURPOSE: To investigate the ophthalmologic manifestations of Korean patients with Gaucher disease. METHODS: Clinical records of 5 patients who were referred to the pediatric ophthalmology clinic of Seoul National University Bundang... -
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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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- 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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- Parkinsonism Associated with Glucocerebrosidase Mutation
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Sunwoo MK, Kim SM, Lee S, Lee PH
- KMID: 2178974
- J Clin Neurol.
- 2011 Jun;7(2):99-101.
- doi: 10.3988/jcn.2011.7.2.99
BACKGROUND: Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the beta-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor... -
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- Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea
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Ko DS, Lee SH, Park CW, Lim CK
- KMID: 2469598
- Clin Exp Reprod Med.
- 2019 Dec;46(4):206-210.
- doi: 10.5653/cerm.2019.00094
Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive... -
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- Cytologic Features of Gaucher's Disease in the Spleen: A case Report
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Lee HK, Park GS, Kim YS, Lee KY, Kang CS, Shim SI
- KMID: 2226497
- Korean J Cytopathol.
- 1996 Jun;7(1):79-83.
Gaucher's disease is an autosomal recessive disorder resulting fror i mutation at the glucocerebrosidase locus on chromosome 1q21. As a result, glucocerebroside accumulates principally in the phagocytic cells known as... -
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- Ocular Findings in Mucolipidosis Type II
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Suh SY, Cheon CK, Jung JH
- KMID: 2378636
- J Korean Ophthalmol Soc.
- 2017 May;58(5):616-619.
- doi: 10.3341/jkos.2017.58.5.616
PURPOSE: To report ocular findings of a mucolipidosis type II patient with novel mutation. CASE SUMMARY: A 10-year-old boy visited our pediatric genetic metabolic clinic for evaluation of his overall developmental... -
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