참고문헌
- Okada S, Owada M, Sakiyama T, Yutaka T, Ogawa M. Icell disease: clinical studies of 21 Japanese cases. Clin Genet 1985;28:207-15.
- Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004;12:87-92. https://doi.org/10.1038/sj.ejhg.5201044
- Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999;105:151-6. https://doi.org/10.1007/s004399900075
- Leroy JG, Demars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science 1967;157:804-6. https://doi.org/10.1126/science.157.3790.804
- Maroteaux P, Hors-Cayla MC, Pont J. Type II mucolipidosis. Presse Med 1970;78:179-81.
- Walbaum R, Dehaene P, Scharfman W, Farriaux JP, Tondeur M, Vamos-Hurwitz E, et al. Mucolipidosis of type II (I-cell disease): study of 3 cases. Arch Fr Pediatr 1972;29:895.
- Matalon R, Cifonelli JA, Zellweger H, Dormanfman A. Lipid abnormalities in a variant of the Hurler syndrome. Proc Natl Acad Sci U S A 1968;59:1097-102. https://doi.org/10.1073/pnas.59.4.1097
- Maroteaux P, Lamy M. Hurler's pseudo-polydystrophy. Presse Med 1966;74:2889-92.
- Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 2010;47:38-48. https://doi.org/10.1136/jmg.2009.067736
- Gilbert-Barness EF, Barness LA. The mucolipidoses. Perspect Pediatr Pathol 1993;17:148-84.
- Smuts I, Potgieter D, van der Westhuizen FH. Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review. Ann N Y Acad Sci 2009;1151:77-84. https://doi.org/10.1111/j.1749-6632.2008.03451.x
- Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of nonlysosomal proteins. Biochim Biophys Acta 2009;1793:710-25. https://doi.org/10.1016/j.bbamcr.2008.11.015
- Kornfeld SS, W. The Metabolic and Molecular Basis of Inherited Disease.: McGraw-Hill 2001:3469-82.
- Reitman ML, Kornfeld S. Lysosomal enzyme targeting. N-Acetylglucosaminylphosphotransferase selectively phosphorylates native lysosomal enzymes. J Biol Chem 1981;256:11977-80.
- Waheed A, Hasilik A, von Figura K. UDP-N-acetylglucosamine: lysosomal enzyme precursor N-acetylglucosamine- 1-phosphotransferase. Partial purification and characterization of the rat liver Golgi enzyme. J Biol Chem 1982;257:12322-31.
- Varki A, Reitman ML, Vannier A, Kornfeld S, Grubb JH, Sly WS. Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of Nacetylglucosaminylphosphotransferase in white blood cells and fibroblasts. Am J Hum Genet 1982;34:717-29.
- Waheed A, Hasilik A, von Figura K. Processing of the phosphorylated recognition marker in lysosomal enzymes. Characterization and partial purification of a microsomal alpha- N-acetylglucosaminyl phosphodiesterase. J Biol Chem 1981;256:5717-21.
- Bao M, Booth JL, Elmendorf BJ, Canfield WM. Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine- 1-phosphotransferase. I. Purification and subunit structure. J Biol Chem 1996;271:31437-45. https://doi.org/10.1074/jbc.271.49.31437
- Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, et al. Molecular basis of variant pseudohurler polydystrophy (mucolipidosis IIIC). J Clin Invest 2000;105:673-81. https://doi.org/10.1172/JCI5826
- Kudo M, Bao M, D'Souza A, Ying F, Pan H, Roe BA, et al. The alpha- and beta-subunits of the human UDP-Nacetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA. J Biol Chem 2005;280:36141-9. https://doi.org/10.1074/jbc.M509008200
- Varki AP, Reitman ML, Kornfeld S. Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. Proc Natl Acad Sci U S A 1981;78:7773-7. https://doi.org/10.1073/pnas.78.12.7773
- Kollmann K, Pohl S, Marschner K, Encarnacao M, Sakwa I, Tiede S, et al. Mannose phosphorylation in health and disease. Eur J Cell Biol 2010;89:117-23. https://doi.org/10.1016/j.ejcb.2009.10.008
- Afshar A. Bilateral carpal tunnel syndrome and multiple trigger fingers in a child with mucolipidosis Type III disease. Indian J Plast Surg 2011;44:517-20. https://doi.org/10.4103/0970-0358.90845
- Hetherington C, Harris NJ, Smith TW. Orthopaedic management in four cases of mucolipidosis type III. J R Soc Med 1999;92:244-6. https://doi.org/10.1177/014107689909200508
- Haddad FS, Hill RA, Vellodi A. Orthopaedic manifestations of mucolipidosis III: an illustrative case. J Pediatr Orthop B 2000;9:58-61. https://doi.org/10.1097/01202412-200001000-00014
- Robinson C, Baker N, Noble J, King A, David G, Sillence D, et al. The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. J Inherit Metab Dis 2002;25:681-93. https://doi.org/10.1023/A:1022935115323
- Lewis JR, Gibson PH. Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III. J Bone Joint Surg Br 2010;92:289-92.
-
Leroy JG, Cathey SS, Friez MJ.
$GeneReviews^{(R)}$ [Internet]: University of Washington, 2008. - Mallen J, Highstein M, Smith L, Cheng J. Airway management considerations in children with I-cell disease. Int J Pediatr Otorhinolaryngol 2015;79:760-2. https://doi.org/10.1016/j.ijporl.2015.02.034
- Ishak M, Zambrano EV, Bazzy-Asaad A, Esquibies AE. Unusual pulmonary findings in mucolipidosis II. Pediatr Pulmonol 2012;47:719-21. https://doi.org/10.1002/ppul.21599
- Lund TC, Cathey SS, Miller WP, Eapen M, Andreansky M, Dvorak CC, et al. Outcomes after hematopoietic stem cell transplantation for children with I-cell disease. Biol Blood Marrow Transplant 2014;20:1847-51. https://doi.org/10.1016/j.bbmt.2014.06.019
- Shibazaki T, Hirabayashi K, Saito S, Shigemura T, Nakazawa Y, Sakashita K, et al. Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. Am J Med Genet A 2016;170A:1278-82.