-
2
-
-
10744229216
-
Perinatal-lethal Gaucher disease
-
10.1002/ajmg.a.20117
-
C Mignot A Gelot B Bessières, et al. 2003 Perinatal-lethal Gaucher disease Am J Med Genet A 120 338 44 10.1002/ajmg.a.20117
-
(2003)
Am J Med Genet A
, vol.120
, pp. 338-44
-
-
Mignot, C.1
Gelot, A.2
Bessières, B.3
-
3
-
-
33644920441
-
Perinatal lethal Gaucher disease: A distinct phenotype along the neuronopathic continuum
-
DOI 10.1080/15227950500405296, PII J2251141511678
-
MJ Eblan O Goker-Alpan E Sidransky 2005 Perinatal Lethal Gaucher Disease: a distinct phenotype along the neuronopathic continuum Fetal Pediatr Pathol 24 4-5 205 22 10.1080/15227950500405296 16396828 (Pubitemid 43879267)
-
(2005)
Fetal and Pediatric Pathology
, vol.24
, Issue.4-5
, pp. 205-222
-
-
Eblan, M.1
Goker-Alpan, O.2
Sidransky, E.3
-
4
-
-
24644517457
-
Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease
-
DOI 10.1016/j.bcmd.2005.04.007, PII S1079979605000598
-
A Chabás L Gort A Díaz-Font, et al. 2005 Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease Blood Cells Mol Dis 35 253 8 10.1016/j.bcmd.2005. 04.007 15967693 (Pubitemid 41267057)
-
(2005)
Blood Cells, Molecules, and Diseases
, vol.35
, Issue.2
, pp. 253-258
-
-
Chabas, A.1
Gort, L.2
Diaz-Font, A.3
Montfort, M.4
Santamaria, R.5
Cidras, M.6
Grinberg, D.7
Vilageliu, L.8
-
5
-
-
0033951675
-
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
-
DOI 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S
-
DL Stone N Tayebi E Orvisky B Stubblefield V Madike E Sidransky 2000 Glucocerebrosidase gene mutations in patients with type 2 Gaucher Disease Hum Mutat 15 181 8 1:CAS:528:DC%2BD3cXhsF2ksbo%3D 10.1002/(SICI)1098-1004(200002)15: 2<181::AID-HUMU7>3.0.CO;2-S 10649495 (Pubitemid 30078409)
-
(2000)
Human Mutation
, vol.15
, Issue.2
, pp. 181-188
-
-
Stone, D.L.1
Tayebi, N.2
Orvisky, E.3
Stubblefield, B.4
Madike, V.5
Sidransky, E.6
-
6
-
-
0030671265
-
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene
-
DOI 10.1002/(SICI)1096-8628(19971128)73:1<41::AID-AJMG9>3.0.CO;2-S
-
N Tayebi SR Cushner W Kleijer, et al. 1997 Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene Am J Med Genet 73 41 7 1:STN:280:DyaK1c%2FktFOluw%3D%3D 10.1002/(SICI)1096-8628(19971128)73: 1<41::AID-AJMG9>3.0.CO;2-S 9375921 (Pubitemid 27467525)
-
(1997)
American Journal of Medical Genetics
, vol.73
, Issue.1
, pp. 41-47
-
-
Tayebi, N.1
Cushner, S.R.2
Kleijer, W.3
Lau, E.K.4
Damschroder-Williams, P.J.5
Stubblefield, B.K.6
Den Hollander, J.7
Sidransky, E.8
-
7
-
-
0026778029
-
Animal model of Gaucher's Disease from targeted disruption of the mouse glucocerebrosidase gene
-
1:CAS:528:DyaK38Xks1Oqurw%3D 10.1038/357407a0 1594045
-
VL Tybulewicz ML Tremblay ME LaMarca, et al. 1992 Animal model of Gaucher's Disease from targeted disruption of the mouse glucocerebrosidase gene Nature 357 407 10 1:CAS:528:DyaK38Xks1Oqurw%3D 10.1038/357407a0 1594045
-
(1992)
Nature
, vol.357
, pp. 407-10
-
-
Tybulewicz, V.L.1
Tremblay, M.L.2
Lamarca, M.E.3
-
8
-
-
0033010097
-
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
-
DOI 10.1038/sj.ejhg.5200315
-
DL Stone OP van Diggelen JB de Klerk, et al. 1999 Is the perinatal lethal form of Gaucher Disease more common than classic type 2 Gaucher Disease? Eur J Hum Genet 7 505 9 1:STN:280:DyaK1M3otFajug%3D%3D 10.1038/sj.ejhg.5200315 10352942 (Pubitemid 29261337)
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.4
, pp. 505-509
-
-
Stone, D.L.1
Van Diggelen, O.P.2
De Klerk, J.B.C.3
Gaillard, J.L.J.4
Niermeijer, M.F.5
Willemsen, R.6
Tayebi, N.7
Sidransky, E.8
-
9
-
-
58149394044
-
Enzyme replacement therapy for Gaucher disease
-
1:CAS:528:DC%2BD1cXhsVKrs7rE 10.1517/14712590802573395 19063698
-
J Charrow 2009 Enzyme replacement therapy for Gaucher disease Expert Opin Biol Ther 9 121 31 1:CAS:528:DC%2BD1cXhsVKrs7rE 10.1517/14712590802573395 19063698
-
(2009)
Expert Opin Biol Ther
, vol.9
, pp. 121-31
-
-
Charrow, J.1
|