-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Neufeld F., and Muenzer J. The mucopolysaccharidoses. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 8th ed. (2001), McGraw-Hill, New York 3421-3452
-
(2001)
The metabolic and molecular bases of inherited disease. 8th ed.
, pp. 3421-3452
-
-
Neufeld, F.1
Muenzer, J.2
-
2
-
-
0020613358
-
The natural history of the severe form of Hunter's syndrome: a study based on 52 cases
-
Young I.D., and Harper P.S. The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev Med Child Neural 25 (1983) 481-489
-
(1983)
Dev Med Child Neural
, vol.25
, pp. 481-489
-
-
Young, I.D.1
Harper, P.S.2
-
3
-
-
0024588608
-
A clinical and biochemical study of Hunter's syndrome
-
Hiraizumi Y. A clinical and biochemical study of Hunter's syndrome. Acta Sch Med Univ Gifu 37 (1989) 343-377
-
(1989)
Acta Sch Med Univ Gifu
, vol.37
, pp. 343-377
-
-
Hiraizumi, Y.1
-
4
-
-
25444454360
-
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II
-
Kato T., Kato Z., Kuratsubo I., Tanaka N., Ishigami T., Kajihara J., et al. Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. J Hum Genet 50 (2005) 395-402
-
(2005)
J Hum Genet
, vol.50
, pp. 395-402
-
-
Kato, T.1
Kato, Z.2
Kuratsubo, I.3
Tanaka, N.4
Ishigami, T.5
Kajihara, J.6
-
6
-
-
0027154783
-
Performance profiles of the functional independence measure
-
Granger C.V., Hamilton B.B., Linacre J.M., Heinemann A.W., and Wright B.D. Performance profiles of the functional independence measure. Am J Phys Med Rehabil 72 (1993) 84-89
-
(1993)
Am J Phys Med Rehabil
, vol.72
, pp. 84-89
-
-
Granger, C.V.1
Hamilton, B.B.2
Linacre, J.M.3
Heinemann, A.W.4
Wright, B.D.5
-
7
-
-
0036151395
-
Correspondence of the functional independence measure (FIM) self-care subscale with real-time observations of dementia patients' ADL performance in the home
-
Cotter E.M., Burgio L.D., Stevens A.B., Roth D.L., and Gitlin L.N. Correspondence of the functional independence measure (FIM) self-care subscale with real-time observations of dementia patients' ADL performance in the home. Clin Rehabil 16 (2002) 36-45
-
(2002)
Clin Rehabil
, vol.16
, pp. 36-45
-
-
Cotter, E.M.1
Burgio, L.D.2
Stevens, A.B.3
Roth, D.L.4
Gitlin, L.N.5
-
8
-
-
0037677090
-
Use of the FIM instrument in a trial of intramuscular interferon beta-1a for disease progression in relapsing-remitting multiple sclerosis
-
Granger C.V., Wende K., and Brownscheidle C.M. Use of the FIM instrument in a trial of intramuscular interferon beta-1a for disease progression in relapsing-remitting multiple sclerosis. Am J Phys Med Rehabil 82 (2003) 427-436
-
(2003)
Am J Phys Med Rehabil
, vol.82
, pp. 427-436
-
-
Granger, C.V.1
Wende, K.2
Brownscheidle, C.M.3
-
9
-
-
33947583477
-
A trial of scoring the functional independence measure using questionnaire (in Japanese)
-
Ota T., Domen K., Liu M., and Chino N. A trial of scoring the functional independence measure using questionnaire (in Japanese). Sogo Riha 25 (1997) 449-454
-
(1997)
Sogo Riha
, vol.25
, pp. 449-454
-
-
Ota, T.1
Domen, K.2
Liu, M.3
Chino, N.4
-
10
-
-
33947608247
-
-
Ota T, Domen K, Liu M, Sonoda S, Chino N. Scoring the functional independence measure using a questionnaire. World Congress of the International Rehabilitation Medicine Association (8th) 1997; Abstracts: 374.
-
-
-
-
12
-
-
0026562706
-
Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene
-
Sukegawa K., Tomatsu S., Tamai K., Ikeda M., Sasaki T., Masue M., et al. Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene. Biochem Biophys Res Commun 183 (1992) 809-813
-
(1992)
Biochem Biophys Res Commun
, vol.183
, pp. 809-813
-
-
Sukegawa, K.1
Tomatsu, S.2
Tamai, K.3
Ikeda, M.4
Sasaki, T.5
Masue, M.6
-
13
-
-
0025029196
-
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA
-
Wilson P.J., Morris C.P., Anson D.S., Occhiodoro T., Bielicki J., Clements P.R., et al. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 87 (1990) 8531-8535
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8531-8535
-
-
Wilson, P.J.1
Morris, C.P.2
Anson, D.S.3
Occhiodoro, T.4
Bielicki, J.5
Clements, P.R.6
-
14
-
-
0027282627
-
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families
-
Yamada Y., Tomatsu S., Sukegawa K., Suzuki Y., Kondo N., Hopewood J.J., et al. Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families. Hum Genet 92 (1993) 110-111
-
(1993)
Hum Genet
, vol.92
, pp. 110-111
-
-
Yamada, Y.1
Tomatsu, S.2
Sukegawa, K.3
Suzuki, Y.4
Kondo, N.5
Hopewood, J.J.6
-
15
-
-
0031963927
-
Mutation analysis in the iduronate-2-sulfatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
-
lsogai K., Sukegawa K., Tomatsu S., Fukao T., Song X.-Q., Yamada Y., et al. Mutation analysis in the iduronate-2-sulfatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). J Inherit Metab Dis 21 (1998) 60-70
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 60-70
-
-
lsogai, K.1
Sukegawa, K.2
Tomatsu, S.3
Fukao, T.4
Song, X.-Q.5
Yamada, Y.6
-
16
-
-
12944268743
-
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II)
-
Chang J.H., Lin S.P., Lin S.C., Tseng K.L., Li C.L., Chuang C.K., et al. Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II). Hum Genet 116 (2005) 160-166
-
(2005)
Hum Genet
, vol.116
, pp. 160-166
-
-
Chang, J.H.1
Lin, S.P.2
Lin, S.C.3
Tseng, K.L.4
Li, C.L.5
Chuang, C.K.6
-
17
-
-
0034847785
-
Investigation to sequelae of acute encephalopathy (in Japanese)
-
Kurihara M., Nakae Y., Kohagisawa T., Kumagai K., and Eto Y. Investigation to sequelae of acute encephalopathy (in Japanese). No To Hattatsu 33 (2001) 392-399
-
(2001)
No To Hattatsu
, vol.33
, pp. 392-399
-
-
Kurihara, M.1
Nakae, Y.2
Kohagisawa, T.3
Kumagai, K.4
Eto, Y.5
-
18
-
-
0037235315
-
Describing the phenotype in Rett syndrome using a population database
-
Colvin L., Fyfe S., Leonard S., Schiavello T., Ellaway C., De Klerk N., et al. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 88 (2003) 38-43
-
(2003)
Arch Dis Child
, vol.88
, pp. 38-43
-
-
Colvin, L.1
Fyfe, S.2
Leonard, S.3
Schiavello, T.4
Ellaway, C.5
De Klerk, N.6
-
19
-
-
16644394038
-
Spinal muscular atrophy: survival pattern and functional status
-
Chung B.H., Wong V.C., and Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics 114 (2004) e548-e553
-
(2004)
Pediatrics
, vol.114
-
-
Chung, B.H.1
Wong, V.C.2
Ip, P.3
|