- A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease
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Chang YH, Hwang SK
- KMID: 2190760
- J Korean Neurosurg Soc.
- 2013 Mar;53(3):187-189.
- doi: 10.3340/jkns.2013.53.3.187
We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented with aneurysmal SAH originated from a saccular aneurysm of the right posterior... -
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- 2 cases of I-cell disease
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Lee HD, Kim KH, Kim WT, Kim YT, Lim YT, Kim SY, Jeon HJ, Park HJ, Kim CY
- KMID: 1945999
- J Korean Pediatr Soc.
- 1990 Mar;33(3):360-366.
No abstract available. -
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- Biochemical Characteristics of a Korean Patient with Mucolipidosis III (Pseudo-Hurler Polydystrophy)
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Song J, Lee DS, Cho HI, Kim JQ, Cho TJ
- KMID: 1130045
- J Korean Med Sci.
- 2003 Oct;18(5):722-726.
- doi: 10.3346/jkms.2003.18.5.722
We performed a biochemical study on the patient with mucolipidosis III (ML-III, pseudo-Hurler polydystrophy) in Korea. Confluent fibroblasts from the patient and from normal controls were cultured for 4, 12,... -
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- Carpal Tunnel Syndrome Caused by Persistent Median Artery and Bifid Median Nerve in an Adolescent
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Lee SU, Lee HW, Joo SY
- KMID: 2461236
- J Korean Orthop Assoc.
- 2019 Oct;54(5):452-456.
- doi: 10.4055/jkoa.2019.54.5.452
Carpal tunnel syndrome is rare in children. When it does occur in children, the most common causes reported are mucopolysaccharidosis and mucolipidosis. The median artery is a transitory vessel that... -
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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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- 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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- Inborn Errors of Metabolism in Korea
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Lee HJ
- KMID: 2185707
- J Korean Neurol Assoc.
- 2004 Feb;22(1):1-10.
Diseases of inborn errors of metabolism (IEMs) are very rare but the overall prevalence of IEMs is not low, and in the United States, about 5~10% of admitted patients have... -
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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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- A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
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Heo JS, Choi KY, Sohn SH, Kim C, Kim YJ, Shin SH, Lee JM, Lee J, Sohn JA, Lim BC, Lee JA, Choi CW, Kim EK, Kim HS, Kim BI, Choi JH
- KMID: 1781706
- Korean J Pediatr.
- 2012 Nov;55(11):438-444.
- doi: 10.3345/kjp.2012.55.11.438
Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between... -
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