-
1
-
-
31644446680
-
Cumulative incidence rates of the mucopolysaccharidoses in Germany
-
Baehner F,Schmiedeskamp C,Krummenauer F,Miebach E,Bajbouj M,Whybra C,Kohlschutter A,Kampmann C,Beck M. Cumulative incidence rates of the mucopolysaccharidoses in GermanyJ Inherit Metab Dis. 2005;28: 1011-1017.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 1011-1017
-
-
Baehner, F.1
Schmiedeskamp, C.2
Krummenauer, F.3
Miebach, E.4
Bajbouj, M.5
Whybra, C.6
Kohlschutter, A.7
Kampmann, C.8
Beck, M.9
-
2
-
-
0027941423
-
Pathology of the ear in murine mucopolysaccharidosis type VII: morphologic correlates of hearing loss
-
Berry CL,Vogler C,Galvin NJ,Birkenmeier EH,Sly WS. Pathology of the ear in murine mucopolysaccharidosis type VII: morphologic correlates of hearing lossLab Invest. 1994;71: 438-445.
-
(1994)
Lab Invest
, vol.71
, pp. 438-445
-
-
Berry, C.L.1
Vogler, C.2
Galvin, N.J.3
Birkenmeier, E.H.4
Sly, W.S.5
-
3
-
-
33947588765
-
Animal models for mucopolysaccharidosis disorders and their clinical relevance
-
Haskins ME. Animal models for mucopolysaccharidosis disorders and their clinical relevanceActa Paediatr Suppl. 2007;96: 56-62.
-
(2007)
Acta Paediatr Suppl
, vol.96
, pp. 56-62
-
-
Haskins, M.E.1
-
4
-
-
0026181579
-
Mucopolysaccharidosis type VII (Sly syndrome): beta-glucuronidase-deficient mucopolysaccharidosis in the dog
-
Haskins ME,Aguirre GD,Jezyk PF,Schuchman EH,Desnick RJ,Patterson DF. Mucopolysaccharidosis type VII (Sly syndrome): beta-glucuronidase-deficient mucopolysaccharidosis in the dogAm J Pathol. 1991;138: 1553-1555.
-
(1991)
Am J Pathol
, vol.138
, pp. 1553-1555
-
-
Haskins, M.E.1
Aguirre, G.D.2
Jezyk, P.F.3
Schuchman, E.H.4
Desnick, R.J.5
Patterson, D.F.6
-
5
-
-
0021213609
-
Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII
-
Haskins ME,Desnick RJ,DiFerrante N,Jezyk PF,Patterson DF. Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VIIPediatr Res. 1984;18: 980-984.
-
(1984)
Pediatr Res
, vol.18
, pp. 980-984
-
-
Haskins, M.E.1
Desnick, R.J.2
DiFerrante, N.3
Jezyk, P.F.4
Patterson, D.F.5
-
6
-
-
0013939819
-
Hurler's syndrome and the hearing organ
-
Kelemen G. Hurler's syndrome and the hearing organJ Laryngol Otol. 1966;80: 791-803.
-
(1966)
J Laryngol Otol
, vol.80
, pp. 791-803
-
-
Kelemen, G.1
-
7
-
-
33846012365
-
ABR and temporal bone pathology in Hurler's disease
-
Komura Y,Kaga K,Ogawa Y,Yamaguchi Y,Tsuzuku T,Suzuki JI. ABR and temporal bone pathology in Hurler's diseaseInt J Pediatr Otorhinolaryngol. 1998;43: 179-188.
-
(1998)
Int J Pediatr Otorhinolaryngol
, vol.43
, pp. 179-188
-
-
Komura, Y.1
Kaga, K.2
Ogawa, Y.3
Yamaguchi, Y.4
Tsuzuku, T.5
Suzuki, J.I.6
-
8
-
-
0023631346
-
Morphologic and immunohistochemical observation of otosclerotic stapes: a preliminary study
-
Lim DJ,Robinson M,Saunders WH. Morphologic and immunohistochemical observation of otosclerotic stapes: a preliminary studyAm J Otolaryngol. 1987;8: 282-295.
-
(1987)
Am J Otolaryngol
, vol.8
, pp. 282-295
-
-
Lim, D.J.1
Robinson, M.2
Saunders, W.H.3
-
9
-
-
66849115638
-
Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004
-
Lin HY,Lin SP,Chuang CK,Niu DM,Chen MR,Tsai FJ,Chao MC,Chiu PC,Lin SJ,Tsai LP,Hwu WL,Lin JL. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004Am J Med Genet A. 2009;149: 960-964.
-
(2009)
Am J Med Genet A
, vol.149
, pp. 960-964
-
-
Lin, H.Y.1
Lin, S.P.2
Chuang, C.K.3
Niu, D.M.4
Chen, M.R.5
Tsai, F.J.6
Chao, M.C.7
Chiu, P.C.8
Lin, S.J.9
Tsai, L.P.10
Hwu, W.L.11
Lin, J.L.12
-
10
-
-
53749104461
-
Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence
-
Malm G,Lund AM,Mansson JE,Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalenceActa Paediatr. 2008;97: 1577-1581.
-
(2008)
Acta Paediatr
, vol.97
, pp. 1577-1581
-
-
Malm, G.1
Lund, A.M.2
Mansson, J.E.3
Heiberg, A.4
-
12
-
-
67349168769
-
Mechanism of shortened bones in mucopolysaccharidosis VII
-
Metcalf JA,Zhang Y,Hilton MJ,Long F,Ponder KP. Mechanism of shortened bones in mucopolysaccharidosis VIIMol Genet Metab. 2009;97: 202-211.
-
(2009)
Mol Genet Metab
, vol.97
, pp. 202-211
-
-
Metcalf, J.A.1
Zhang, Y.2
Hilton, M.J.3
Long, F.4
Ponder, K.P.5
-
13
-
-
0032555602
-
The core protein of the chondroitin sulfate proteoglycan phosphacan is a high-affinity ligand of fibroblast growth factor-2 and potentiates its mitogenic activity
-
Milev P,Monnerie H,Popp S,Margolis RK,Margolis RU. The core protein of the chondroitin sulfate proteoglycan phosphacan is a high-affinity ligand of fibroblast growth factor-2 and potentiates its mitogenic activityJ Biol Chem. 1998;273: 21439-21442.
-
(1998)
J Biol Chem
, vol.273
, pp. 21439-21442
-
-
Milev, P.1
Monnerie, H.2
Popp, S.3
Margolis, R.K.4
Margolis, R.U.5
-
14
-
-
0033921465
-
Treatment of otitis media with effusion in children with mucopolysaccharidoses
-
Motamed M,Thorne S,Narula A. Treatment of otitis media with effusion in children with mucopolysaccharidosesInt J Pediatr Otorhinolaryngol. 2000;53: 121-124.
-
(2000)
Int J Pediatr Otorhinolaryngol
, vol.53
, pp. 121-124
-
-
Motamed, M.1
Thorne, S.2
Narula, A.3
-
15
-
-
58349094118
-
Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic
-
Murphy AM,Lambert D,Treacy EP,O'Meara A,Lynch SA. Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republicArch Dis Child. 2009;94: 52-54.
-
(2009)
Arch Dis Child
, vol.94
, pp. 52-54
-
-
Murphy, A.M.1
Lambert, D.2
Treacy, E.P.3
O'Meara, A.4
Lynch, S.A.5
-
16
-
-
0031447880
-
Incidence of the mucopolysaccharidoses in Northern Ireland
-
Nelson J. Incidence of the mucopolysaccharidoses in Northern IrelandHum Genet. 1997;101: 355-358.
-
(1997)
Hum Genet
, vol.101
, pp. 355-358
-
-
Nelson, J.1
-
18
-
-
0036019397
-
Inner ear pathology in the mucopolysaccharidosis VII mouse
-
Ohlemiller KK,Hennig AK,Lett JM,Heidbreder AF,Sands MS. Inner ear pathology in the mucopolysaccharidosis VII mouseHear Res. 2002;169: 69-84.
-
(2002)
Hear Res
, vol.169
, pp. 69-84
-
-
Ohlemiller, K.K.1
Hennig, A.K.2
Lett, J.M.3
Heidbreder, A.F.4
Sands, M.S.5
-
19
-
-
0025835670
-
Requirement of heparan sulfate for bFGF-mediated fibroblast growth and myoblast differentiation
-
Rapraeger AC,Krufka A,Olwin BB. Requirement of heparan sulfate for bFGF-mediated fibroblast growth and myoblast differentiationScience. 1991;252: 1705-1708.
-
(1991)
Science
, vol.252
, pp. 1705-1708
-
-
Rapraeger, A.C.1
Krufka, A.2
Olwin, B.B.3
-
20
-
-
0025859233
-
Oversulfated mucopolysaccharides in the otosclerotic bone
-
Ribari O,Pereplica M,Sziklai I. Oversulfated mucopolysaccharides in the otosclerotic boneActa Otolaryngol. 1991;111: 362-365.
-
(1991)
Acta Otolaryngol
, vol.111
, pp. 362-365
-
-
Ribari, O.1
Pereplica, M.2
Sziklai, I.3
-
21
-
-
33845987087
-
Age-related functional and histopathological changes of the ear in the MPS I mouse
-
Schachern PA,Cureoglu S,Tsuprun V,Paparella MM,Whitley CB. Age-related functional and histopathological changes of the ear in the MPS I mouseInt J Pediatr Otorhinolaryngol. 2007;71: 197-203.
-
(2007)
Int J Pediatr Otorhinolaryngol
, vol.71
, pp. 197-203
-
-
Schachern, P.A.1
Cureoglu, S.2
Tsuprun, V.3
Paparella, M.M.4
Whitley, C.B.5
-
22
-
-
0021342232
-
Mucopolysaccharidosis I-H (Hurler's syndrome) and human temporal bone histopathology
-
Schachern PA,Shea DA,Paparella MM. Mucopolysaccharidosis I-H (Hurler's syndrome) and human temporal bone histopathologyAnn Otol Rhinol Laryngol. 1984;93: 65-69.
-
(1984)
Ann Otol Rhinol Laryngol
, vol.93
, pp. 65-69
-
-
Schachern, P.A.1
Shea, D.A.2
Paparella, M.M.3
-
23
-
-
0021361624
-
Morphologic and biochemical studies of canine mucopolysaccharidosis I
-
Shull RM,Helman RG,Spellacy E,Constantopoulos G,Munger RJ,Neufeld EF. Morphologic and biochemical studies of canine mucopolysaccharidosis IAm J Pathol. 1984;114: 487-495.
-
(1984)
Am J Pathol
, vol.114
, pp. 487-495
-
-
Shull, R.M.1
Helman, R.G.2
Spellacy, E.3
Constantopoulos, G.4
Munger, R.J.5
Neufeld, E.F.6
-
24
-
-
0020425057
-
Canine alpha-l-iduronidase deficiency: a model of mucopolysaccharidosis I
-
Shull RM,Munger RJ,Spellacy E,Hall CW,Constantopoulos G,Neufeld EF. Canine alpha-l-iduronidase deficiency: a model of mucopolysaccharidosis IAm J Pathol. 1982;109: 244-248.
-
(1982)
Am J Pathol
, vol.109
, pp. 244-248
-
-
Shull, R.M.1
Munger, R.J.2
Spellacy, E.3
Hall, C.W.4
Constantopoulos, G.5
Neufeld, E.F.6
-
25
-
-
17844390101
-
Otorhinolaryngological manifestations of the mucopolysaccharidoses
-
Simmons MA,Bruce IA,Penney S,Wraith E,Rothera MP. Otorhinolaryngological manifestations of the mucopolysaccharidosesInt J Pediatr Otorhinolaryngol. 2005;69: 589-595.
-
(2005)
Int J Pediatr Otorhinolaryngol
, vol.69
, pp. 589-595
-
-
Simmons, M.A.1
Bruce, I.A.2
Penney, S.3
Wraith, E.4
Rothera, M.P.5
-
26
-
-
0016247701
-
Beta-glucuronidase deficiency mucopolysaccharidosis
-
Sly WS,Brot FE,Glaser J,Stahl PD,Quinton BA,Rimoin DL,McAlister WH. Beta-glucuronidase deficiency mucopolysaccharidosisBirth Defects Orig Artic Ser. 1974;10: 239-245.
-
(1974)
Birth Defects Orig Artic Ser
, vol.10
, pp. 239-245
-
-
Sly, W.S.1
Brot, F.E.2
Glaser, J.3
Stahl, P.D.4
Quinton, B.A.5
Rimoin, D.L.6
McAlister, W.H.7
-
27
-
-
0015582263
-
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis
-
Sly WS,Quinton BA,McAlister WH,Rimoin DL. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosisJ Pediatr. 1973;82: 249-257.
-
(1973)
J Pediatr
, vol.82
, pp. 249-257
-
-
Sly, W.S.1
Quinton, B.A.2
McAlister, W.H.3
Rimoin, D.L.4
-
28
-
-
0004196886
-
-
7th ed. Graham DI Lantos PL, ed, London, UK: Arnold
-
Suzuki K,Suzuki K Greenfield's Neuropathology. 7th ed. Graham DI Lantos PL, ed. London, UK: Arnold; 2002:653-735.
-
(2002)
Greenfield's Neuropathology
, pp. 653-735
-
-
Suzuki, K.1
Suzuki, K.2
-
29
-
-
77449159265
-
Otosclerosis: an organ-specific inflammatory disease with sensorineural hearing loss
-
Sziklai I,Batta TJ,Karosi T. Otosclerosis: an organ-specific inflammatory disease with sensorineural hearing lossEur Arch Otorhinolaryngol. 2009;266: 1711-1718.
-
(2009)
Eur Arch Otorhinolaryngol
, vol.266
, pp. 1711-1718
-
-
Sziklai, I.1
Batta, T.J.2
Karosi, T.3
-
30
-
-
79955866221
-
Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses [published online ahead of print November 20, 2009]
-
Wold SM,Derkay CS,Darrow DH,Proud V. Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses [published online ahead of print November 20, 2009]Int J Pediatr Otorhinolaryngol.:
-
Int J Pediatr Otorhinolaryngol
-
-
Wold, S.M.1
Derkay, C.S.2
Darrow, D.H.3
Proud, V.4
|