-
1
-
-
33847773967
-
A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom
-
Chabás A, Duque J, Gort L, 2007. A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom. J Inherit Metab Dis 30: 108.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 108
-
-
Chabás, A.1
Duque, J.2
Gort, L.3
-
2
-
-
0032510824
-
Molecular cloning, structural organization, sequence, chromosomal assignment, and expression of the mouse alpha-N-acetylgalactosaminidase gene
-
Herrmann T, Schindler D, Tabe H, Onodera O, Igarashi S, Polack A, et al. 1998. Molecular cloning, structural organization, sequence, chromosomal assignment, and expression of the mouse alpha-N-acetylgalactosaminidase gene. Gene 211: 205-214.
-
(1998)
Gene
, vol.211
, pp. 205-214
-
-
Herrmann, T.1
Schindler, D.2
Tabe, H.3
Onodera, O.4
Igarashi, S.5
Polack, A.6
-
3
-
-
34247157359
-
Mutational analysis of aspartoacylase: Implications for Canavan disease
-
Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA, 2007. Mutational analysis of aspartoacylase: implications for Canavan disease. Brain Res 1148: 1-14.
-
(2007)
Brain Res
, vol.1148
, pp. 1-14
-
-
Hershfield, J.R.1
Pattabiraman, N.2
Madhavarao, C.N.3
Namboodiri, M.A.4
-
4
-
-
32044463622
-
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene
-
Janson CG, Kolodny EH, Zeng BJ, Raghavan S, Pastores G, Torres P, et al. 2006. Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene. Ann Neurol 59: 428-431.
-
(2006)
Ann Neurol
, vol.59
, pp. 428-431
-
-
Janson, C.G.1
Kolodny, E.H.2
Zeng, B.J.3
Raghavan, S.4
Pastores, G.5
Torres, P.6
-
5
-
-
11144280604
-
Three-dimensional structural studies of alpha-N- acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): Different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes
-
Kanekura T, Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Hirabayashi Y, et al. 2005. Three-dimensional structural studies of alpha-N- acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes. J Dermatol Sci 37: 15-20.
-
(2005)
J Dermatol Sci
, vol.37
, pp. 15-20
-
-
Kanekura, T.1
Sakuraba, H.2
Matsuzawa, F.3
Aikawa, S.4
Doi, H.5
Hirabayashi, Y.6
-
6
-
-
1542379882
-
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: Dating of founder ancestor
-
Karpati M, Gazit E, Goldman B, Frisch A, Colombo R, Peleg L, 2004. Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor. Neurogenetics 5: 35-40.
-
(2004)
Neurogenetics
, vol.5
, pp. 35-40
-
-
Karpati, M.1
Gazit, E.2
Goldman, B.3
Frisch, A.4
Colombo, R.5
Peleg, L.6
-
7
-
-
35448954859
-
Isolation, sequence analysis and expression profile of a novel porcine gene, NIP7, differentially expressed in the longissimus dorsi muscle tissues from Meishan, Meishan Large White cross and Large White pigs
-
Liu GY, Xiong YZ, 2007. Isolation, sequence analysis and expression profile of a novel porcine gene, NIP7, differentially expressed in the longissimus dorsi muscle tissues from Meishan, Meishan Large White cross and Large White pigs. Mol Biol Rep 344: 213-219.
-
(2007)
Mol Biol Rep
, vol.344
, pp. 213-219
-
-
Liu, G.Y.1
Xiong, Y.Z.2
-
8
-
-
5444259953
-
Comparison of gene expression patterns in longissimus dorsi of pigs between the high-parent heterosis cross combination LandraceLarge White and the mid-parent heterosis cross combination Large WhiteMeishan
-
Liu YG, Xiong YZ, Deng CY, Zuo B, Zhang JH, 2004. Comparison of gene expression patterns in longissimus dorsi of pigs between the high-parent heterosis cross combination LandraceLarge White and the mid-parent heterosis cross combination Large WhiteMeishan. Asian-Aust J Anim Sci 17: 1192-1196.
-
(2004)
Asian-Aust J Anim Sci
, vol.17
, pp. 1192-1196
-
-
Liu, Y.G.1
Xiong, Y.Z.2
Deng, C.Y.3
Zuo, B.4
Zhang, J.H.5
-
9
-
-
1842836363
-
Eight novel mutations in the HEXA gene
-
McGinniss MJ, Brown DH, Fulwiler A, Marten M, Lim-Steele JS, Kaback MM, 2002. Eight novel mutations in the HEXA gene. Genet Med 4: 158-161.
-
(2002)
Genet Med
, vol.4
, pp. 158-161
-
-
McGinniss, M.J.1
Brown, D.H.2
Fulwiler, A.3
Marten, M.4
Lim-Steele, J.S.5
Kaback, M.M.6
-
10
-
-
10744226948
-
-
Miklyaeva EI, Dong W, Bureau A, Fattahie R, Xu Y, Su M, et al. 2004. Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system. Brain Res 1001: 37-50.
-
Miklyaeva EI, Dong W, Bureau A, Fattahie R, Xu Y, Su M, et al. 2004. Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system. Brain Res 1001: 37-50.
-
-
-
-
11
-
-
0141893608
-
Molecular basis of Canavan's disease: From human to mouse
-
Surendran S, Matalon KM, Tyring SK, Matalon R, 2003. Molecular basis of Canavan's disease: from human to mouse. J Child Neurol 18: 604-610.
-
(2003)
J Child Neurol
, vol.18
, pp. 604-610
-
-
Surendran, S.1
Matalon, K.M.2
Tyring, S.K.3
Matalon, R.4
-
12
-
-
0036881453
-
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
-
Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, et al. 2002. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. J Inherit Metab Dis 25: 557-570.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 557-570
-
-
Zeng, B.J.1
Wang, Z.H.2
Ribeiro, L.A.3
Leone, P.4
De Gasperi, R.5
Kim, S.J.6
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