- A Case of Mucopolysaccharidosis Type I with Spinal Cord Compression
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Cheon SM, Park MJ, Cha JK
- KMID: 2342957
- J Korean Neurol Assoc.
- 2002 Mar;20(2):199-201.
A 21-year-old woman with gargoyloid face and short trunkal stature showed progressive quadriparesis. Cervical spine MRI showed circumferential compression of cervical spinal cord by thickened dura mater. Elevated urinary dermatan... -
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- 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 Experience of the Anesthetic Management of Mucopolysaccharidosis
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Lee S, Kim CS, Yang MK, Choi SJ, Lee BD, Park YO, Heo BY
- KMID: 1935962
- Korean J Anesthesiol.
- 2003 Nov;45(5):672-676.
- doi: 10.4097/kjae.2003.45.5.672
Mucopolysaccharidosis is characterized by the progressive accumulation of glycosaminoglycans in multiple organs. Valve and coronary involvement, upper airway obstructive disease, joint stiffness, and mental retardation are associated perioperative anesthetic risks.... -
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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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- A Simple and Rapid Method Based on Liquid Chromatography-Tandem Mass Spectrometry for the Measurement of alpha-L-Iduronidase Activity in Dried Blood Spots: An Application to Mucopolysaccharidosis I (Hurler) Screening
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Yang JS, Min HK, Oh HJ, Woo HI, Lee SY, Kim JW, Song J, Park HD
- KMID: 2363146
- Ann Lab Med.
- 2015 Jan;35(1):41-49.
- doi: 10.3343/alm.2015.35.1.41
BACKGROUND: We developed an analytical method to measure alpha-L-iduronidase (IDUA) activity in dried blood spots. This was achieved by using liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) with electrospray... -
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- A Case of Gargoylism Complicated with Pneumonia
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Kang SJ, Choi BH, Shin MS, Tockgo YC
- KMID: 1660923
- J Korean Pediatr Soc.
- 1977 Jun;20(6):476-479.
A 40 month old male child with gargoylism complicated with pneumonia was reported. Diagnosis was established by clinical, laboratory and X-ray findings. We alos reviewed the literatures briefly. -
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- Multiple occurance of gargoylism in a family
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Lee DH, Oh JS
- KMID: 2346053
- J Korean Radiol Soc.
- 1972 Dec;8(4):331-334.
- doi: 10.3348/jkrs.1972.8.4.331
Three patients with multiple occurance of Gargoylism in a family who were admitted to Kyungpook National University Hospital were observed. Two cases were siblings and another one was maternal relative... -
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- A Case of Hurler's Syndrome
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Roh YW, Ok IY
- KMID: 2471508
- J Korean Orthop Assoc.
- 1974 Jun;9(2):235-238.
- doi: 10.4055/jkoa.1974.9.2.235
A 14 months old boy with Hurler's syndrome, manifesting developmental retardation, grotesque facial appearance, dwarfism. kyphosis and hepatosplenomegaly are presented. Roentgenographic examination of the spine showed kyphosis at the upper... -
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- Gargoylism: report of a case
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Choi SW, Song MK, Suh WH, Chung WK
- KMID: 2346026
- J Korean Radiol Soc.
- 1972 Jun;8(2):119-122.
- doi: 10.3348/jkrs.1972.8.2.119
A case of Gargoylism developed in 6 months infant was reported with a review of the literature. This infantvisited out Hospital on 24th, March, 1972, with bilateral inguinal hernia. Routine... -
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- A Case of Osteogenesis Imperfecta associated with Aortic Regurgitation
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Jeon SH, Kim WG, Kim JK, Kim JS, Ryu JC, Hong SK, Hyon MS, Hwang HK
- KMID: 2306309
- Korean J Med.
- 1999 Feb;56(2):209-214.
Osteogenesis imperfecta is one of the groups of hereditary disorders of connective tissue which includes the Ehlers-Danlos syndrome, the Marfan syndrome, pseudoxanthoma elasticum, and Hurler syndrome. While cardiovascular involvement is associated with... -
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- Clinical Analysis of Short Stature
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Kim KH, Kim HY, Kim DH, Yun DJ
- KMID: 2103965
- J Korean Pediatr Soc.
- 1980 Sep;23(9):702-709.
Adequate growth is the most importment and principal factor in the fields of pediatrics and also it is great concern to all parents. There are many causes of short stature,... -
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- Anesthetic Experience in Three Patiente with Hurlers Syndrome
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Kim JC, Jeon JK
- KMID: 2357420
- Korean J Anesthesiol.
- 1981 Mar;14(1):101-105.
It is well known that many problems occur in patients with Hurler's syndrome both during anesthesia and after. Hurler's syndrome is a mucopolysaccharoidoses characterized by and abnormal metabolism of the... -
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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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