-
1
-
-
84855268685
-
Glycosaminoglycan storage disorders: a review
-
doi:10.1155/2012/471325
-
Coutinho MF, Lacerda L, Alves S (2011) Glycosaminoglycan storage disorders: a review. Biochem Res Int 2012: 471325. doi: 10. 1155/2012/471325.
-
(2011)
Biochem Res Int
, vol.2012
, pp. 471325
-
-
Coutinho, M.F.1
Lacerda, L.2
Alves, S.3
-
2
-
-
2342589511
-
The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations
-
doi:10.1016/j.jpeds.2004.01.052
-
Muenzer J (2004) The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 144(5 Suppl): S27-S34. doi: 10. 1016/j. jpeds. 2004. 01. 052.
-
(2004)
J Pediatr
, vol.144
, Issue.5 SUPPL.
-
-
Muenzer, J.1
-
3
-
-
0028916610
-
The mucopolysaccharidoses: a clinical review and guide to management
-
doi:10.1136/adc.72.3.263
-
Wraith JE (1995) The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 72(3): 263-267. doi: 10. 1136/adc. 72. 3. 263.
-
(1995)
Arch Dis Child
, vol.72
, Issue.3
, pp. 263-267
-
-
Wraith, J.E.1
-
4
-
-
33847319635
-
Ophthalmologic signs in mucopolysaccharidoses: two case reports
-
Lala-Gitteau E, Majzoub S, Labarthe F, Blesson S, Pisella PJ (2007) Ophthalmologic signs in mucopolysaccharidoses: two case reports. J Fr Ophtalmol 30(2): 165-169.
-
(2007)
J Fr Ophtalmol
, vol.30
, Issue.2
, pp. 165-169
-
-
Lala-Gitteau, E.1
Majzoub, S.2
Labarthe, F.3
Blesson, S.4
Pisella, P.J.5
-
5
-
-
0025058103
-
Cardiovascular studies in the mucopolysaccharidoses
-
doi:10.1136/jmg.27.2.94
-
Nelson J, Shields MD, Mulholland HC (1990) Cardiovascular studies in the mucopolysaccharidoses. J Med Genet 27(2): 94-100. doi: 10. 1136/jmg. 27. 2. 94.
-
(1990)
J Med Genet
, vol.27
, Issue.2
, pp. 94-100
-
-
Nelson, J.1
Shields, M.D.2
Mulholland, H.C.3
-
6
-
-
79951727604
-
Cardiac magnetic resonance imaging of mucopolysaccharidosis type II cardiomyopathy
-
doi:10.1016/j.ijcard.2010.10.089
-
Mostefa Kara M, de Groote P, Abboud G, Tillie-Leblond I, Mouquet F (2011) Cardiac magnetic resonance imaging of mucopolysaccharidosis type II cardiomyopathy. Int J Cardiol 147(1): 170-171. doi: 10. 1016/j. ijcard. 2010. 10. 089.
-
(2011)
Int J Cardiol
, vol.147
, Issue.1
, pp. 170-171
-
-
Mostefa Kara, M.1
de Groote, P.2
Abboud, G.3
Tillie-Leblond, I.4
Mouquet, F.5
-
7
-
-
84861998734
-
Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
-
doi:10.1016/j.ijcard.2011.06.097
-
Golda A, Jurecka A, Tylki-Szymanska A (2011) Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). Int J Cardiol 158(1): 6-11. doi: 10. 1016/j. ijcard. 2011. 06. 097.
-
(2011)
Int J Cardiol
, vol.158
, Issue.1
, pp. 6-11
-
-
Golda, A.1
Jurecka, A.2
Tylki-Szymanska, A.3
-
8
-
-
77953447715
-
Evaluation of disease severity in mucopolysaccharidosis
-
doi:10.3233/PRM-2010-0100
-
Beck M, Muenzer J, Scarpa M (2010) Evaluation of disease severity in mucopolysaccharidosis. J Pediatr Rehab Med 3(1): 39-46. doi: 10. 3233/PRM-2010-0100.
-
(2010)
J Pediatr Rehab Med
, vol.3
, Issue.1
, pp. 39-46
-
-
Beck, M.1
Muenzer, J.2
Scarpa, M.3
-
9
-
-
33947198645
-
New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy
-
doi:10.1007/s00439-006-0280-4
-
Beck M (2007) New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet 123: 1-22. doi: 10. 1007/s00439-006-0280-4.
-
(2007)
Hum Genet
, vol.123
, pp. 1-22
-
-
Beck, M.1
-
10
-
-
77953415192
-
Growth patterns and the use of growth hormone in the mucopolysaccharidoses
-
doi:10.3233/PRM-2010-0106
-
Polgreen LE, Miller BS (2010) Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med 3(1): 25-38. doi: 10. 3233/PRM-2010-0106.
-
(2010)
J Pediatr Rehabil Med
, vol.3
, Issue.1
, pp. 25-38
-
-
Polgreen, L.E.1
Miller, B.S.2
-
11
-
-
84881061710
-
-
Vienna doi: 10. 1594/ecr2012/C-2180
-
Lanza ML, Attinà G, Palmucci S, Mauro LA, Belfiore G, Barone R, Fiumara A, Sorge G, Ettorre GC (2012) Imaging findings of mucopolysaccharidosis EPOS European Congress of Radiology, Vienna doi: 10. 1594/ecr2012/C-2180.
-
(2012)
Imaging findings of mucopolysaccharidosis EPOS European Congress of Radiology
-
-
Lanza, M.L.1
Attinà, G.2
Palmucci, S.3
Mauro, L.A.4
Belfiore, G.5
Barone, R.6
Fiumara, A.7
Sorge, G.8
Ettorre, G.C.9
-
12
-
-
77953467194
-
Orthopedic management of mucopolysaccharide disease
-
doi:10.3233/PRM-2010-0102
-
White KK, Harmatz P (2010) Orthopedic management of mucopolysaccharide disease. J Pediatr Rehabil Med 3(1): 47-56. doi: 10. 3233/PRM-2010-0102.
-
(2010)
J Pediatr Rehabil Med
, vol.3
, Issue.1
, pp. 47-56
-
-
White, K.K.1
Harmatz, P.2
-
13
-
-
79955108535
-
Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine
-
doi:10.1259/bjr/59197814
-
Rasalkar DD, Chu WC, Hui J, Chu CM, Paunipagar BK, Li CK (2011) Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol 84(1001): 469-477. doi: 10. 1259/bjr/59197814.
-
(2011)
Br J Radiol
, vol.84
, Issue.1001
, pp. 469-477
-
-
Rasalkar, D.D.1
Chu, W.C.2
Hui, J.3
Chu, C.M.4
Paunipagar, B.K.5
Li, C.K.6
-
14
-
-
77954651674
-
Cartilage and chondrocyte pathology in the mucopolysaccharidoses: the role of glycosaminoglycan-mediated inflammation
-
doi:10.3233/PRM-2010-0120
-
Simonaro CM (2010) Cartilage and chondrocyte pathology in the mucopolysaccharidoses: the role of glycosaminoglycan-mediated inflammation. J Pediatr Rehabil Med 3(2): 85-88. doi: 10. 3233/PRM-2010-0120.
-
(2010)
J Pediatr Rehabil Med
, vol.3
, Issue.2
, pp. 85-88
-
-
Simonaro, C.M.1
-
15
-
-
77954633206
-
Radiologic and neuroradiologic findings in the mucopolysaccharidoses
-
doi:10.3233/PRM-2010-0115
-
Lachman R, Martin KW, Castro S, Basto MA, Adams A, Teles EL (2010) Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med 3(2): 109-118. doi: 10. 3233/PRM-2010-0115.
-
(2010)
J Pediatr Rehabil Med
, vol.3
, Issue.2
, pp. 109-118
-
-
Lachman, R.1
Martin, K.W.2
Castro, S.3
Basto, M.A.4
Adams, A.5
Teles, E.L.6
-
16
-
-
34548203201
-
Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings
-
doi:10.1212/01.wnl.0000269782.80107.fe
-
Vedolin L, Schwartz IV, Komlos M, Schuch A, Azevedo AC, Vieira T, Maeda FK, Marques da Silva AM, Giugliani R (2007) Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings. Neurology 69(9): 917-924. doi: 10. 1212/01. wnl. 0000269782. 80107. fe.
-
(2007)
Neurology
, vol.69
, Issue.9
, pp. 917-924
-
-
Vedolin, L.1
Schwartz, I.V.2
Komlos, M.3
Schuch, A.4
Azevedo, A.C.5
Vieira, T.6
Maeda, F.K.7
Marques da Silva, A.M.8
Giugliani, R.9
-
17
-
-
0036364949
-
Pediatrics ribs: a spectrum of abnormalities
-
Glass RB, Norton KI, Mitre SA, Kang E (2002) Pediatrics ribs: a spectrum of abnormalities. Radiographics 22(1): 87-104.
-
(2002)
Radiographics
, vol.22
, Issue.1
, pp. 87-104
-
-
Glass, R.B.1
Norton, K.I.2
Mitre, S.A.3
Kang, E.4
-
18
-
-
0026856581
-
Pediatric pelvis: radiographic appearance in various congenital disorders
-
Eich GF, Babyn P, Giedion A (1992) Pediatric pelvis: radiographic appearance in various congenital disorders. Radiographics 12(3): 467-484.
-
(1992)
Radiographics
, vol.12
, Issue.3
, pp. 467-484
-
-
Eich, G.F.1
Babyn, P.2
Giedion, A.3
-
19
-
-
70449719317
-
Muscoskeletal manifestations of lysosomal storage disorders
-
doi:10.1136/ard.2008.095315
-
Aldenhoven M, Sakkers RJ, Boelens J, de Koning TJ, Wulffraat NM (2009) Muscoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis 68(11): 1659-1665. doi: 10. 1136/ard. 2008. 095315.
-
(2009)
Ann Rheum Dis
, vol.68
, Issue.11
, pp. 1659-1665
-
-
Aldenhoven, M.1
Sakkers, R.J.2
Boelens, J.3
de Koning, T.J.4
Wulffraat, N.M.5
-
20
-
-
79951774639
-
Hand and foot abnormalities associated with genetic diseases
-
doi:10.1007/s11552-010-9302-8
-
Mankin HJ, Jupiter J, Trahan CA (2011) Hand and foot abnormalities associated with genetic diseases. Hand (NY) 6(1): 18-26. doi: 10. 1007/s11552-010-9302-8.
-
(2011)
Hand (NY)
, vol.6
, Issue.1
, pp. 18-26
-
-
Mankin, H.J.1
Jupiter, J.2
Trahan, C.A.3
-
21
-
-
77953474885
-
Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses
-
doi:10.3233/PRM-2010-0103
-
White K, Kim T, Neufeld JA (2010) Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses. J Pediatr Rehab Med 3(1): 57-62. doi: 10. 3233/PRM-2010-0103.
-
(2010)
J Pediatr Rehab Med
, vol.3
, Issue.1
, pp. 57-62
-
-
White, K.1
Kim, T.2
Neufeld, J.A.3
-
22
-
-
79953163996
-
Respiratory manifestations in mucopolysaccharidoses
-
doi:10.1016/j.prrv.2010.10.005
-
Muhlebach MS, Wooten W, Muenzer J (2011) Respiratory manifestations in mucopolysaccharidoses. Paediatr Respir Rev 12(2): 133-138. doi: 10. 1016/j. prrv. 2010. 10. 005.
-
(2011)
Paediatr Respir Rev
, vol.12
, Issue.2
, pp. 133-138
-
-
Muhlebach, M.S.1
Wooten, W.2
Muenzer, J.3
-
23
-
-
84879694961
-
Respiratory and sleep disorders in mucopolysaccharidosis
-
doi:10.1007/s10545-012-9555-1
-
Berger KI, Fagondes SC, Giugliani R, Hardy KA, Lee KS, McArdle C, Scarpa M, Tobin MJ, Ward SA, Rapoport DM (2012) Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis:. doi: 10. 1007/s10545-012-9555-1.
-
(2012)
J Inherit Metab Dis
-
-
Berger, K.I.1
Fagondes, S.C.2
Giugliani, R.3
Hardy, K.A.4
Lee, K.S.5
McArdle, C.6
Scarpa, M.7
Tobin, M.J.8
Ward, S.A.9
Rapoport, D.M.10
-
24
-
-
72649098330
-
Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses
-
doi:10.1016/j.ijporl.2009.09.042
-
Wold SM, Derkay CS, Darrow DH, Proud V (2010) Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 74(1): 27-31. doi: 10. 1016/j. ijporl. 2009. 09. 042.
-
(2010)
Int J Pediatr Otorhinolaryngol
, vol.74
, Issue.1
, pp. 27-31
-
-
Wold, S.M.1
Derkay, C.S.2
Darrow, D.H.3
Proud, V.4
-
25
-
-
84865619454
-
External and middle ear diseases: radiological diagnosis based on clinical signs and symptoms
-
doi:10.1007/s13244-011-0126-z
-
Trojanowska A, Drop A, Trojanowski P, Rosińska-Bogusiewicz K, Klatka J, Bobek-Billewicz B (2012) External and middle ear diseases: radiological diagnosis based on clinical signs and symptoms. Insights Imaging 3(1): 33-48. doi: 10. 1007/s13244-011-0126-z.
-
(2012)
Insights Imaging
, vol.3
, Issue.1
, pp. 33-48
-
-
Trojanowska, A.1
Drop, A.2
Trojanowski, P.3
Rosińska-Bogusiewicz, K.4
Klatka, J.5
Bobek-Billewicz, B.6
-
26
-
-
57149093240
-
Three-dimensional CT and histopathological findings of airway malacia in Hunter syndrome
-
Nagano R, Takizawa S, Hayama N, Umemura S, Uesugi T, Nakagawa S, Okamoto S, Yanagimachi N, Takagi S, Tokai J (2007) Three-dimensional CT and histopathological findings of airway malacia in Hunter syndrome. Exp Clin Med 32(2): 59-61.
-
(2007)
Exp Clin Med
, vol.32
, Issue.2
, pp. 59-61
-
-
Nagano, R.1
Takizawa, S.2
Hayama, N.3
Umemura, S.4
Uesugi, T.5
Nakagawa, S.6
Okamoto, S.7
Yanagimachi, N.8
Takagi, S.9
Tokai, J.10
-
27
-
-
79960944401
-
Multidetector computed tomography (MDCT) for preoperative airway assessment in children with mucopolysaccharidoses
-
Ingelmo PM, Parini R, Grimaldi M, Mauri F, Romagnoli M, Tagliabue G, Somaini M, Sahillioǧlu E, Frawley G (2011) Multidetector computed tomography (MDCT) for preoperative airway assessment in children with mucopolysaccharidoses. Minerva Anestesiol 77(8): 774-780.
-
(2011)
Minerva Anestesiol
, vol.77
, Issue.8
, pp. 774-780
-
-
Ingelmo, P.M.1
Parini, R.2
Grimaldi, M.3
Mauri, F.4
Romagnoli, M.5
Tagliabue, G.6
Somaini, M.7
Sahillioǧlu, E.8
Frawley, G.9
-
28
-
-
35248835048
-
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings
-
doi:10.1007/s10545-007-0555-5
-
Santamaria F, Andreucci MV, Parenti G, Polverino M, Viggiano D, Montella S, Cesaro A, Ciccarelli R, Capaldo B, Andria G (2007) Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. J Inherit Metab Dis 30(5): 743-749. doi: 10. 1007/s10545-007-0555-5.
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.5
, pp. 743-749
-
-
Santamaria, F.1
Andreucci, M.V.2
Parenti, G.3
Polverino, M.4
Viggiano, D.5
Montella, S.6
Cesaro, A.7
Ciccarelli, R.8
Capaldo, B.9
Andria, G.10
-
29
-
-
17844390101
-
Otorhinolaryngological manifestations of the mucopolysaccharidoses
-
doi:10.1016/j.ijporl.2005.01.017
-
Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP (2005) Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 69(5): 589-595. doi: 10. 1016/j. ijporl. 2005. 01. 017.
-
(2005)
Int J Pediatr Otorhinolaryngol
, vol.69
, Issue.5
, pp. 589-595
-
-
Simmons, M.A.1
Bruce, I.A.2
Penney, S.3
Wraith, E.4
Rothera, M.P.5
-
30
-
-
27744489845
-
Diffusion-weighted MR imaging in leukodystrophies
-
doi:10.1007/s00330-005-2846-2
-
Patay Z (2005) Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol 15(11): 2284-2303. doi: 10. 1007/s00330-005-2846-2.
-
(2005)
Eur Radiol
, vol.15
, Issue.11
, pp. 2284-2303
-
-
Patay, Z.1
-
31
-
-
84861123212
-
Closed Meningo(encephalo)cele: a new feature in Hunter syndrome
-
Italian MPS Neuroimaging Study Group, doi:10.3174/ajnr.A2867
-
Manara R, Priante E, Grimaldi M, Santoro L, Polonara G, Parini R, Scarpa M, Italian MPS Neuroimaging Study Group (2012) Closed Meningo(encephalo)cele: a new feature in Hunter syndrome. AJNR Am J Neuroradiol 33(5): 873-877. doi: 10. 3174/ajnr. A2867.
-
(2012)
AJNR Am J Neuroradiol
, vol.33
, Issue.5
, pp. 873-877
-
-
Manara, R.1
Priante, E.2
Grimaldi, M.3
Santoro, L.4
Polonara, G.5
Parini, R.6
Scarpa, M.7
-
32
-
-
4444287601
-
Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation
-
doi:10.1007/s00234-004-1215-1
-
Matheus MG, Castillo M, Smith JK, Armao D, Towle D, Muenzer J (2004) Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 46(8): 666-672. doi: 10. 1007/s00234-004-1215-1.
-
(2004)
Neuroradiology
, vol.46
, Issue.8
, pp. 666-672
-
-
Matheus, M.G.1
Castillo, M.2
Smith, J.K.3
Armao, D.4
Towle, D.5
Muenzer, J.6
-
33
-
-
79959802247
-
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
-
doi:10.1007/s10545-011-9317-5
-
Manara R, Priante E, Grimaldi M, Santoro L, Astarita L, Barone R, Concolino D, Di Rocco M, Donati MA, Fecarotta S, Ficcadenti A, Fiumara A, Furlan F, Giovannini I, Lilliu F, Mardari R, Polonara G, Procopio E, Rampazzo A, Rossi A, Sanna G, Parini R, Scarpa M (2011) Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis 34(3): 763-780. doi: 10. 1007/s10545-011-9317-5.
-
(2011)
J Inherit Metab Dis
, vol.34
, Issue.3
, pp. 763-780
-
-
Manara, R.1
Priante, E.2
Grimaldi, M.3
Santoro, L.4
Astarita, L.5
Barone, R.6
Concolino, D.7
Di Rocco, M.8
Donati, M.A.9
Fecarotta, S.10
Ficcadenti, A.11
Fiumara, A.12
Furlan, F.13
Giovannini, I.14
Lilliu, F.15
Mardari, R.16
Polonara, G.17
Procopio, E.18
Rampazzo, A.19
Rossi, A.20
Sanna, G.21
Parini, R.22
Scarpa, M.23
more..
-
34
-
-
34547903894
-
Mucopolysaccharidoses (MPS) clinical and neuroradiological aspects of the different types
-
doi:10.1007/s00062-007-7017-1
-
Müller-Forell W, Schulze Frenking G, Amraoui Y, Beck M (2007) Mucopolysaccharidoses (MPS) clinical and neuroradiological aspects of the different types. Clin Neuroradiol 17: 141-158. doi: 10. 1007/s00062-007-7017-1.
-
(2007)
Clin Neuroradiol
, vol.17
, pp. 141-158
-
-
Müller-Forell, W.1
Schulze Frenking, G.2
Amraoui, Y.3
Beck, M.4
-
35
-
-
84873655862
-
Brain and spinal MR imaging findings in mucopolysaccharidoses: a review
-
doi:10.3174/ajnr.A2832
-
Zafeiriou DI, Batzios SP (2013) Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol 34(1): 5-13. doi: 10. 3174/ajnr. A2832.
-
(2013)
AJNR Am J Neuroradiol
, vol.34
, Issue.1
, pp. 5-13
-
-
Zafeiriou, D.I.1
Batzios, S.P.2
-
36
-
-
0025073525
-
MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome)
-
Shimoda-Matsubayashi S, Kuru Y, Sumie H, Ito T, Hattori N, Okuma Y, Mizuno Y (1990) MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). Neuroradiology 32(4): 328-330.
-
(1990)
Neuroradiology
, vol.32
, Issue.4
, pp. 328-330
-
-
Shimoda-Matsubayashi, S.1
Kuru, Y.2
Sumie, H.3
Ito, T.4
Hattori, N.5
Okuma, Y.6
Mizuno, Y.7
-
37
-
-
22644441772
-
Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II)
-
doi:10.1016/S0009-9260(96)80246-7
-
Parsons VJ, Hughes DG, Wraith JE (1996) Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II). Clin Radiol 51: 719-723. doi: 10. 1016/S0009-9260(96)80246-7.
-
(1996)
Clin Radiol
, vol.51
, pp. 719-723
-
-
Parsons, V.J.1
Hughes, D.G.2
Wraith, J.E.3
-
38
-
-
0027496536
-
The mucopolysaccharidoses: characterization by cranial MR imaging
-
Lee C, Dineen TE, Brack M, Kirsch JE, Runge VM (1993) The mucopolysaccharidoses: characterization by cranial MR imaging. AJNR Am J Neuroradiol 14(6): 1285-1292.
-
(1993)
AJNR Am J Neuroradiol
, vol.14
, Issue.6
, pp. 1285-1292
-
-
Lee, C.1
Dineen, T.E.2
Brack, M.3
Kirsch, J.E.4
Runge, V.M.5
-
39
-
-
34250822221
-
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II
-
doi:10.3174/ajnr.A0510
-
Vedolin L, Schwartz IV, Komlos M, Schuch A, Puga AC, Pinto LL, Pires AP, Giugliani R (2007) Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. AJNR Am J Neuroradiol 28(6): 1029-1033. doi: 10. 3174/ajnr. A0510.
-
(2007)
AJNR Am J Neuroradiol
, vol.28
, Issue.6
, pp. 1029-1033
-
-
Vedolin, L.1
Schwartz, I.V.2
Komlos, M.3
Schuch, A.4
Puga, A.C.5
Pinto, L.L.6
Pires, A.P.7
Giugliani, R.8
-
40
-
-
1542348953
-
Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses
-
doi:10.1002/ajmg.a.20515
-
Gabrielli O, Polonara G, Regnicolo L, Petroni V, Scarabino T, Coppa GV, Salvolini U (2004) Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses. Am J Med Genet A125A(3): 224-231. doi: 10. 1002/ajmg. a. 20515.
-
(2004)
Am J Med Genet
, vol.A125A
, Issue.3
, pp. 224-231
-
-
Gabrielli, O.1
Polonara, G.2
Regnicolo, L.3
Petroni, V.4
Scarabino, T.5
Coppa, G.V.6
Salvolini, U.7
-
41
-
-
51749098218
-
Imaging of the craniocervical junction
-
doi:10.1007/s00381-008-0601-0
-
Wendy R, Smoker K, Khanna G (2008) Imaging of the craniocervical junction. Childs Nerv Syst 24: 1123-1145. doi: 10. 1007/s00381-008-0601-0.
-
(2008)
Childs Nerv Syst
, vol.24
, pp. 1123-1145
-
-
Wendy, R.1
Smoker, K.2
Khanna, G.3
-
42
-
-
84897920741
-
Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter syndrome)
-
doi:10.1007/s10545-010-9197-0
-
Davison JE, Hendriksz CJ, Sun Y, Davies NP, Gissen P, Peet AC (2010) Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter syndrome). J Inherit Metab Dis: doi: 10. 1007/s10545-010-9197-0.
-
(2010)
J Inherit Metab Dis
-
-
Davison, J.E.1
Hendriksz, C.J.2
Sun, Y.3
Davies, N.P.4
Gissen, P.5
Peet, A.C.6
-
43
-
-
84879685561
-
Intellectual and neurological functioning in Morquio syndrome (MPS IVa)
-
doi:10.1007/s10545-011-9430-5
-
Davison JE, Kearney S, Horton J, Foster K, Peet AC, Hendriksz CJ (2012) Intellectual and neurological functioning in Morquio syndrome (MPS IVa). J Inherit Metab Dis: doi: 10. 1007/s10545-011-9430-5.
-
(2012)
J Inherit Metab Dis
-
-
Davison, J.E.1
Kearney, S.2
Horton, J.3
Foster, K.4
Peet, A.C.5
Hendriksz, C.J.6
-
44
-
-
0035090147
-
1H-magnetic resonance spectroscopy before and after bone marrow transplantation
-
doi:10.1203/00006450-200103000-00008
-
1H-magnetic resonance spectroscopy before and after bone marrow transplantation. Pediatr Res 49(3): 349-355. doi: 10. 1203/00006450-200103000-00008.
-
(2001)
Pediatr Res
, vol.49
, Issue.3
, pp. 349-355
-
-
Takahashi, Y.1
Sukegawa, K.2
Aoki, M.3
Ito, A.4
Suzuki, K.5
Sakaguchi, H.6
Watanabe, M.7
Isogai, K.8
Mizuno, S.9
Hoshi, H.10
Kuwata, K.11
Tomatsu, S.12
Kato, S.13
Ito, T.14
Kondo, N.15
Orii, T.16
|