- Gargoylism-Hurler's syndrome
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Park CY, Chun KP, Choi BS, Suh SM
- KMID: 2346098
- J Korean Radiol Soc.
- 1966 Nov;2(1):55-60.
- doi: 10.3348/jkrs.1966.2.1.55
It is becoming clear that the clinical entities of three diseases of Gargoylism, Morquio's disease andrecently known Morquio-Ullrich's disease are not sharply defined syndrome. Although inborn errors and metabolismof mucopolysaccharide... -
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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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- Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
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Lee NH, Cho SY, Maeng SH, Jeon TY, Sohn YB, Kim SJ, Park HD, Jin DK
- KMID: 1781705
- Korean J Pediatr.
- 2012 Nov;55(11):430-437.
- doi: 10.3345/kjp.2012.55.11.430
PURPOSE: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean... -
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- Morquio's Syndrome: A Case Report
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Choi KS, Choung ES, Yang CR
- KMID: 2445427
- J Korean Orthop Assoc.
- 1989 Oct;24(5):1507-1511.
- doi: 10.4055/jkoa.1989.24.5.1507
Morquio's syndrome is a very rare disease, which is characterized by dwarfism, flattening of the vertebral body, marked spinal kyphosis, widespread affection of the epiphyses and normal intelligence. The authors... -
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- Morphological Analysis of 6 Cases of Achondroplasia
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Kim JY, Chung YK, Jyu DS, Rhee SK, Kim YJ
- KMID: 2471488
- J Korean Orthop Assoc.
- 1974 Sep;9(3):315-320.
- doi: 10.4055/jkoa.1974.9.3.315
Achondroplasia, one of the most common form of dwarfism, among the Morquio's disease, cretinism, rickets, diastrophic dwarfism and mongolism, is a skeletal inborn error in which the subjects characteristically presents;... -
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