-
1
-
-
0028899004
-
The presenting features of mucopolysaccharidosis type IH (Hurler syndrome)
-
Cleary MA, Wraith JE (1995) The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr Scand 84:337-339
-
(1995)
Acta Paediatr Scand
, vol.84
, pp. 337-339
-
-
Cleary, M.A.1
Wraith, J.E.2
-
2
-
-
0027487001
-
Management of mucopolysaccharidosis type III
-
Cleary MA, Wraith JE (1993) Management of mucopolysaccharidosis type III. Arch Dis Child 69:403-406
-
(1993)
Arch Dis Child
, vol.69
, pp. 403-406
-
-
Cleary, M.A.1
Wraith, J.E.2
-
3
-
-
0030567921
-
Clinical and biochemical manifestations of hyaluronidase deficiency
-
Natowicz MR, Short MP, Wang Y et al. (1996) Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med 335:1029-1033
-
(1996)
N Engl J Med
, vol.335
, pp. 1029-1033
-
-
Natowicz, M.R.1
Short, M.P.2
Wang, Y.3
-
4
-
-
0033022132
-
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX
-
Triggs-Raine B, Salo TJ, Zhang H et al. (1999) Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci USA 96:6296-6300
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 6296-6300
-
-
Triggs-Raine, B.1
Salo, T.J.2
Zhang, H.3
-
5
-
-
82955249288
-
A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopatic arthritis
-
Imundo L, Luduc CA, Guha S et al (2011). A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopatic arthritis. J Inherit Metab Dis. 2011 Oct;34:1013-22
-
(2011)
J Inherit Metab Dis. 2011 Oct
, vol.34
, pp. 1013-1022
-
-
Imundo, L.1
Luduc, C.A.2
Guha, S.3
-
6
-
-
0033840811
-
Immunodeficiency in alpha-mannosidosis: A matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes
-
Malm D, Halvorsen DS, Tranebjaerg L et al. (2000) Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. Eur J Pediatr 159:699-703
-
(2000)
Eur J Pediatr
, vol.159
, pp. 699-703
-
-
Malm, D.1
Halvorsen, D.S.2
Tranebjaerg, L.3
-
7
-
-
0036924461
-
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations
-
Bedilu R, Nummy KA, Cooper A et al. (2002) Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Mol Genet Metab 77:282-290
-
(2002)
Mol Genet Metab
, vol.77
, pp. 282-290
-
-
Bedilu, R.1
Nummy, K.A.2
Cooper, A.3
-
8
-
-
0026026852
-
Fucosidosis revisited: A review of 77 patients
-
Willems PJ, Gatti R, Darby JK et al. (1991) Fucosidosis revisited: a review of 77 patients. Am J Med Genet 38:111-131
-
(1991)
Am J Med Genet
, vol.38
, pp. 111-131
-
-
Willems, P.J.1
Gatti, R.2
Darby, J.K.3
-
9
-
-
2542442511
-
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity
-
Kleta R, Morse RP, Orvisky E et al. (2004) Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Mol Genet Metab 82:137-143
-
(2004)
Mol Genet Metab
, vol.82
, pp. 137-143
-
-
Kleta, R.1
Morse, R.P.2
Orvisky, E.3
-
10
-
-
67650070762
-
Free sialic acid storage disease without sialuria
-
Mochel F, Yang B, Barritault J et al. (2009) Free sialic acid storage disease without sialuria. Ann Neurol 65:753-757
-
(2009)
Ann Neurol
, vol.65
, pp. 753-757
-
-
Mochel, F.1
Yang, B.2
Barritault, J.3
-
11
-
-
64849092646
-
Cerebellar ataxia with elevated cerbrospinal free sialic acid (CAFSA)
-
Mochel F, Sedel F, Vanderver A et al. (2009) Cerebellar ataxia with elevated cerbrospinal free sialic acid (CAFSA). Brain 132:801-809
-
(2009)
Brain
, vol.132
, pp. 801-809
-
-
Mochel, F.1
Sedel, F.2
Vanderver, A.3
-
12
-
-
2442687004
-
Dysmorphic facial features in aspartylglucosaminuria patients and carriers
-
Arvio MA, Peippo MM, Arvio PJ et al. (2004) Dysmorphic facial features in aspartylglucosaminuria patients and carriers. Clin Dysmorphol 13:11-15
-
(2004)
Clin Dysmorphol
, vol.13
, pp. 11-15
-
-
Arvio, M.A.1
Peippo, M.M.2
Arvio, P.J.3
-
13
-
-
0027193750
-
Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions
-
Arvio M (1993) Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions. Acta Paediatr Scand 82:469-471
-
(1993)
Acta Paediatr Scand
, vol.82
, pp. 469-471
-
-
Arvio, M.1
-
14
-
-
0442309576
-
Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease)
-
Sakuraba H, Matsuzawa F, Aikawa S et al. (2004) Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). J Hum Genet 49:1-8
-
(2004)
J Hum Genet
, vol.49
, pp. 1-8
-
-
Sakuraba, H.1
Matsuzawa, F.2
Aikawa, S.3
-
15
-
-
0029809357
-
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
-
Gelb BD, Shi GP, Chapman HA, Desnick RJ (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273:1236-1238
-
(1996)
Science
, vol.273
, pp. 1236-1238
-
-
Gelb, B.D.1
Shi, G.P.2
Chapman, H.A.3
Desnick, R.J.4
-
16
-
-
1942425113
-
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor
-
Malvagia S, Morrone A, Caciotti A et al. (2004) New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. Mol Genet Metab 82:48-55
-
(2004)
Mol Genet Metab
, vol.82
, pp. 48-55
-
-
Malvagia, S.1
Morrone, A.2
Caciotti, A.3
-
17
-
-
64449085191
-
Pathogenic cascades in lysosomal disease – why so complex?
-
Walkley SU (2009) Pathogenic cascades in lysosomal disease – why so complex? J Inherit Metab Dis 32:181-189
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 181-189
-
-
Walkley, S.U.1
-
18
-
-
54049125089
-
Multiple enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrotomy
-
Zhang XK, Elbin CS, Chuang WL et al. (2008) Multiple enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrotomy. Clin Chem 54:1725-1728
-
(2008)
Clin Chem
, vol.54
, pp. 1725-1728
-
-
Zhang, X.K.1
Elbin, C.S.2
Chuang, W.L.3
-
19
-
-
77954487800
-
Near normalization of adult height and body proportions by growth hormone in pycnodysostosis
-
Rothenbuhler A, Piquard C, Gueorguieva I et al (2010) Near normalization of adult height and body proportions by growth hormone in pycnodysostosis. J Clin Endocrinol Metab 95:2827-2828
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 2827-2828
-
-
Rothenbuhler, A.1
Piquard, C.2
Gueorguieva, I.3
-
20
-
-
70349820325
-
Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharidosis type IIIB mice
-
Malinowska M, Wilkinson FL, Bennett W et al. (2009) Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharidosis type IIIB mice. Mol Genet Metab 98:235-242
-
(2009)
Mol Genet Metab
, vol.98
, pp. 235-242
-
-
Malinowska, M.1
Wilkinson, F.L.2
Bennett, W.3
-
21
-
-
72449148318
-
Transplant outcomes in mucopolysaccharidoses
-
Prasad VK, Kurtzberg J (2010) Transplant outcomes in mucopolysaccharidoses. Semin Hematol 47:59-69
-
(2010)
Semin Hematol
, vol.47
, pp. 59-69
-
-
Prasad, V.K.1
Kurtzberg, J.2
-
22
-
-
0347419495
-
Musculoskeletal manifestations of Hurler syndrome: Long-term follow-up after bone marrow transplantation
-
Weisstein JS, Delgado E, Steinbach LS et al. (2004) Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop 24:97-101
-
(2004)
J Pediatr Orthop
, vol.24
, pp. 97-101
-
-
Weisstein, J.S.1
Delgado, E.2
Steinbach, L.S.3
-
23
-
-
33846198829
-
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years
-
Sifuentes M, Doroshow R, Holt R et al. (2007) A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 90:171-180
-
(2007)
Mol Genet Metab
, vol.90
, pp. 171-180
-
-
Sifuentes, M.1
Doroshow, R.2
Holt, R.3
-
24
-
-
57249094012
-
Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: Experience in 18 patients
-
Wynn RF, Mercer J, Carr TF et al. (2009) Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients. J Pediatr 154:135-139
-
(2009)
J Pediatr
, vol.154
, pp. 135-139
-
-
Wynn, R.F.1
Mercer, J.2
Carr, T.F.3
-
25
-
-
33747209013
-
A phase II/III clinical study of enzyme replacement therapy with Idursulfase in mucopolysaccharidosis II (Hunter syndrome)
-
Muenzer J, Wraith JE, Beck M et al. (2006) A phase II/III clinical study of enzyme replacement therapy with Idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8:465-473
-
(2006)
Genet Med
, vol.8
, pp. 465-473
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
-
26
-
-
46949093352
-
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase
-
Harmatz P, Gugliani R, Schwartz IV et al. (2008) Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab 94: 469-475
-
(2008)
Mol Genet Metab
, vol.94
, pp. 469-475
-
-
Harmatz1
Gugliani, P.R.2
Schwartz, I.V.3
-
27
-
-
33745097202
-
Limitations of enzyme replacement therapy: Current and future
-
Wraith JE (2006) Limitations of enzyme replacement therapy: current and future. J Inherit Metab Dis 29:422-447
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 422-447
-
-
Wraith, J.E.1
-
28
-
-
77649219162
-
Novel treatments and future perspectives: Outcome of intrathecal drug delivery
-
Dicksion PI (2009) Novel treatments and future perspectives: outcome of intrathecal drug delivery. Int J Clin Pharmacol Ther 47 [Suppl 1]: S124-S127
-
(2009)
Int J Clin Pharmacol Ther
, vol.47
, pp. S124-S127
-
-
Dicksion, P.I.1
-
29
-
-
77956061221
-
Therapeutic approaches for neuronopathic lysosomal storage disorders
-
Schiffmann R (2010) Therapeutic approaches for neuronopathic lysosomal storage disorders. J Inherit Metab Dis 33:373-9
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 373-379
-
-
Schiffmann, R.1
-
30
-
-
66149133657
-
Gene therapy for lysosomal storage diseases (LSDs) in large animal models
-
Haskins M (2009) Gene therapy for lysosomal storage diseases (LSDs) in large animal models. ILAR J 50: 112-121
-
(2009)
ILAR J
, vol.50
, pp. 112-121
-
-
Haskins, M.1
|