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1462F The pharmacological chaperone AT1001
increases the tissue uptake of agalsidase alfa resulting
in greater substrate reduction in a mouse model of
Fabry disease.
L. Pellegrino, J. Feng, M. Frascella, R.
Soska, J. J. Flanagan, D. Guillen, D. J. Lockhart, K. J.
Valenzano, R. Khanna.
1463F Eliglustat, an investigational oral therapy for
Gaucher disease type 1: Phase 2 results after 3 years.
M. J. Peterschmitt, E. Lukina, N. Watman, M. Dragosky,
M. Iastrebner, G. Pastores, E. Avila Arreguin, M. Phillips,
H. Rosenbaum, E. Sysoeva, R. Aguzzi, L. H. Ross, A. C.
Puga.
1464F Continued improvement in a forty year old man
with mucopolysaccharidosis type II after four years of
enzyme replacement therapy.
F. J. Stewart, M.
McCloskey, J. E. Wraith.
1465F Quantitative evaluation of bones in murine MPS
VII after replacement therapy using chemically
modified enzyme.
S. Tomatsu, D. J. Rowan, J. H. Grubb,
B. Haupt, A. M. Montaño, W. S. Sly.
1466F Cell-based evaluation of small molecules for
treatment of Pompe disease.
W. Westbroek, A. M.
Gustafson, J. J. Marugan, J. Xiao, W. Zheng, A. Velayati,
E. Goldin, E. Sidransky.
1467F Current treatment and outcome of infantile
cobalamin C disease.
N. Carrillo-Carrasco, J. Sloan, I.
Manoli, N. Hauser, A. Gropman, C. O'Shea, R. D. Graf, W.
M. Zein, P. Tanpaiboon, S. M. Paul, J. Snow, C. Wagner,
S. H. Mudd, B. P. Brooks, C. P. Venditti.
1468F Long-term effectiveness of helper-dependent
adenoviral gene therapy in an hypomorphic mouse
model of argininosuccinic aciduria.
P. Campeau, O.
Shchelochkov, K. Guse, S. C. Sreenath Nagamani, Y.
Chen, J. Zhang, M. H. Premkumar, T. Bertin, D. Palmer, N.
Brunetti-Pierri, J. Marini, Q. Sun, W. O'Brien, N. S. Bryan,
A. Erez, B. H. Lee.
1469F A new pharmacologic approach for cystinuria.
A. Sahota, M. Yang, S. Shikhel, M. R. Lewis, M. D. Ward,
D. S. Goldfarb, J. A. Tischfield.
1470F Restoration of impaired nitric oxide production
in MELAS syndrome with citrulline and arginine
supplementation.
A. El-Hattab, J. W. Hsu, L. J. Wong, W.
Craigen, F. Jahoor, F. Scaglia.
1471F Bezafibrate differentially impacts respiratory
chain deficiencies resulting from various mtDNA
mutations.
S. Gobin-Limballe, J. Wong, D. Chretien, Z.
Assouline, V. Serre, L. Nonnenmacher, S. Monnot, A.
Rotig, P. De Lonlay, A. S. Lebre, M. Rio, A. Munnich, J.
Steffann, J.P. Bonnefont.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1472F Reduction of NADPH-oxidase activity
ameliorates the cardiovascular phenotype in a mous
model of Williams-Beuren syndrome.
L. A. Perez-
Jurado, M. Segura, V. Terrado, C. Sanchez-Rodriguez,
Coustets, M. Menacho-Marquez, J. Nevado, X. Bustelo,
U. Francke, V. Campuzano.
1473F Elevated cerebral spinal fluid calbindin-D leve
in Niemann-Pick disease, type C and response to
miglustat therapy.
N. M. Yanjanin, A. Remaley, M.
Sampson, F. D. Porter.
1474F Recovery of peroxisome dysfunction by
flavonoid compounds in fibroblasts from Zellweger
spectrum patients having the common allele, PEX1-
Gly843Asp.
G. MacLean, S. Steinberg, N. Braverman.
1475F Histone deacetylase inhibitor suberoylanilide
hydroxamic acid normalizes the levels of very long
chain fatty acids in human skin fibroblasts from X-
adrenoleukodystrophy patients and downregulates t
expression of proinflammatory cytokines in Abcd1/2
silenced mouse astrocytes.
J. Singh, M. Khan, I. Sing
1476F Homocystinuria: Treatment with N-
acetylcysteine.
B. M. Gilfix.
1477F Disease-causing allele specific silencing agai
the
ALK2
mutants,
R206H
and
G356D
, in fibrodyspla
ossificans progressiva.
H. Hohjoh, M. Takahashi, T.
Katagiri, H. Furuya.
1478F Small interfering RNAs targeting oncogenic
EGFR alleles as a possible cancer agent.
M. Takahas
T. Chiyo, T. Okada, H. Hohjoh.
1479F Intrathecal enzyme replacement therapy for
neurological impairment in mucopolysaccharidosis
Z. Hadipour, F. Hadipour, P. Sarkhail, Y. Shafeghati.
1480F Gene and stem cell therapy for Tay-Sachs an
Sandhoff diseases.
B. V. Feinerman, J. Paino.
1481F Gene therapy as a potential treatment of
cardiomyopathy in propionic acidemia.
R. J. Chandle
N. Carrillo-Carrasco, S. Chandrasekaran, P. M. Zerfas,
P. Venditti.
1482F Dye laser photodynamic therapy for Bowen’s
disease in a patient with epidermodysplasia
verruciformis.
K. Fukai, M. Sunohara, T. Ozawa, T.
Harada, M. Ishii.
1483F Evaluation of the therapeutic potential of
Ramipril in a murine model for Marfan syndrome.
B.
Lima, G. R. Fernandes, L. V. Pereira.
1484F BMN 111, a CNP analogue, promotes skeletal
growth and rescues dwarfism in two transgenic
mouse models of Fgfr3-related chondrodysplasia.
F.
Lorget, N. Kaci, J. Peng, C. Benoist-Lasselin, F. Di Roc
E. Mugniery, S. Bullens, S. Bunting, L. Tsuruda, C. O'N
A. Munnich, L. Legeai-Mallet.