Achyuthan, 2001, Comparative enzymology, biochemistry and pathophysiology of human exo-α-sialidases (neuraminidases), Comp Biochem Physiol B Biochem Mol Biol, 129, 29, 10.1016/S1096-4959(01)00372-4
Arvio, 2002, Carriers of the asparthylglucosaminuria genetic mutation and chronic arthritis, Ann Rheum Dis, 61, 180, 10.1136/ard.61.2.180
Arvio, 2002, Progressive nature of aspartylglucosaminuria, Acta Paediatr, 91, 255, 10.1111/j.1651-2227.2002.tb01707.x
Bach, 2001, Mucolipidosis type IV, Mol Genet Metab, 73, 197, 10.1006/mgme.2001.3195
Berg, 1999, Spectrum of mutations in α-Mannosidosis, Am J Hum Genet, 64, 77, 10.1086/302183
Bonten, 2000, Novel mutations in lysosomal neuraminidase identify domains and determine clinical severity in sialidosis, Hum Mol Genet, 9, 2715, 10.1093/hmg/9.18.2715
Brik, 1993, Mucolipidosis III presenting as a rheumatological disorder, J Rheumatol, 20, 133
Callahan, 1999, Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Stucture-function studies of lysosomal β-galactosidase and the non-lysosomal β-galactosidase-like protein, Biochem Biophys Acta, 1455, 85
Coëslier, 2001, Le syndrome de Dyggve-Melchior-Clausen: diagnostic différentiel de la mucopolysaccharidose de type IV ou maladie de Morquio, Arch Pédiatr, 8, 838, 10.1016/S0929-693X(01)00544-9
Crockard, 1995, Craniovertebral junction anomalies in inherited disorders: part of the syndrome or caused by the disorder?, Eur J Pediatr, 154, 504, 10.1007/BF02074823
De Kremer, 1992, Mucopolysaccharidosis type VII (β-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia, Am J Med Genet, 44, 145, 10.1002/ajmg.1320440206
DeFriend, 2000, Mannosidosis: an unusual cause of a deforming arthropathy, Skeletal Radiol, 29, 358, 10.1007/s002560000213
Eckhoff, 1992, Severe destructive polyarthropathy in association with a metabolic storage disease, J Bone Joint Surg [Am], 74, 1257, 10.2106/00004623-199274080-00019
Eggli, 1986, The mucopolysaccharidoses and related conditions, Semin Roentgenol, 21, 275, 10.1016/0037-198X(86)90039-8
Field, 1994, Bone-marrow transplantation in Hurler's syndrome, J Bone Joint Surg [Br], 76, 975, 10.1302/0301-620X.76B6.7983131
Galluzi, 2001, MR brain imaging of fucosidosis type I, AJNR Am J Neuroradiol, 22, 777
Gillett, 2001, Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly, J Pediatr Gastroenterol Nutr, 33, 216, 10.1097/00005176-200108000-00025
Grabb, 1995, Multiple suture synostosis, macrocephaly, and intracranial hypertension in a child with α-D-mannosidase deficiency, J Neurosurg, 82, 647, 10.3171/jns.1995.82.4.0647
Guffon, 1997, Oligosaccharidoses et glycoprotéinoses, Encycl Méd Chir, 4p
Haddad, 1997, Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses, J Bone Joint Surg [Br], 79, 576, 10.1302/0301-620X.79B4.7547
Hetherington, 1999, Orthopaedic management in four cases of mucolipidosis type III, J R Soc Med, 92, 244, 10.1177/014107689909200508
Jones, 1997, Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristics, J Neuropathol Exp Neurol, 56, 1158, 10.1097/00005072-199710000-00010
Kachur, 2000, Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation, Neurosurgery, 47, 223
Kanazawa, 2001, Femoral head dysplasia in Morquio disease type A, Acta Orthop Scand, 72, 18, 10.1080/000164701753606635
Lee, 1977, Radiographics features of fucosidosis, Pediatr Radiol, 5, 204, 10.1007/BF00972177
Levin, 1997, Lumbar gibbus in storage diseases and bone dysplasias, Pediatr Radiol, 27, 289, 10.1007/s002470050131
Litjens, 2001, Mucopolysaccharidosis type VI: structural and clinical implications of mutations in N-acethylgalactosamine-4-sulfatase, Hum Mutat, 18, 282, 10.1002/humu.1190
Lukong, 2001, Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex, J Biol Chem, 276, 17286, 10.1074/jbc.M100460200
Maroteaux, 2002
McAlister, 2002, Osteochondrodysplasias, dysostoses, chromosomal aberrations, mucopolysaccharidoses, and mucolipidoses, 4449
Michalski, 1999, Glycoprotein lysosomal storage disorders: α- and β-mannosidosis, fucosidosis and α-N-acetylgalactosaminidase deficiency, Biochem Biophys Acta, 1455, 69
Mikles, 1997, A review of Morquio syndrome, Am J Orthop, 26, 533
Monroy, 2002, Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease, Bone, 30, 352, 10.1016/S8756-3282(01)00679-2
Neufeld, 2001, The mucopolysaccharidoses, 3421
Northover, 1996, Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review, J Inher Metab Dis, 19, 357, 10.1007/BF01799267
Parsons, 1996, Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (MPS type II), Clin Radiol, 51, 719, 10.1016/S0009-9260(96)80246-7
Pshezhetsky, 2001, Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology, Prog Nucl Acid Res Mol Biol, 69, 81, 10.1016/S0079-6603(01)69045-7
Saarela, 2001, Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations, Hum Mol Genet, 10, 983, 10.1093/hmg/10.9.983
Sun, 2001, Recent progress in lysosomal α-Mannosidase and its deficiency, Exp Mol Med, 33, 1, 10.1038/emm.2001.1
Susuki, 2001, β-galactosidase deficiency: GM1 gangliosidosis and Morquio B disease, 3775
Tandon, 1996, Spinal problems in mucopolysaccharidosis I (Hurler syndrome), J Bone Joint Surg [Br], 78, 938, 10.1302/0301-620X78B6.1279
Thomas, 2001, Disorders of glycoprotein degradation and structure, 3507
Tylki-Szymanska, 2002, Clinical variability in mucolipidosis III (Pseudo-Hurler polydystrophy), Am J Med Genet, 108, 214, 10.1002/ajmg.10224
Vidailhet, 1996, Mucopolysaccharidoses, Encyl Méd Chir, 4p
Vougioukas, 2001, Neurosurgical interventions in children with Maroteaux-Lamy syndrome, Pediatr Neurosurg, 35, 35, 10.1159/000050383
Wihlborg, 2000, MRI appearances of hip abnormalities in mucolipidosis type III, Pediatr Radiol, 30, 262, 10.1007/s002470050735
Willems, 1991, Fucosidosis revisited: a review of 77 patients, Am J Med Genet, 38, 111, 10.1002/ajmg.1320380125
Wraith, 1995, The mucopolysaccharidosis: a clinical review and guide to management, Arch Dis Child, 72, 263, 10.1136/adc.72.3.263
Yogalingam, 2001, Molecular genetics of MPS type IIIA and IIIB: diagnostic, clinical, and biological implications, Hum Mutat, 18, 264, 10.1002/humu.1189