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1438F Enzyme replacement therapy for children with
hypophosphatasia: Dual-energy x-ray absorptiometry
improvement after 6 months of treatment with ENB-
0040.
M. P. Whyte, F. Zhang, K. L. Madson, D. Wenkert,
C. R. Greenberg, W. H. McAlister, A. L. Reeves, K. E.
Mack, A. G. Yakimoski, A. Mhanni, A. M. Skrinar, H.
Landy.
1439F Studies on recombinant adeno-associated virus
vector co-expressing hVEGF165 and hBMP-7 genes
combined with BMSCs promoting steroid-induced
avascular necrosis of the femoral head repair.
C.
Zhang, K. Wang, M. Li, X. Dang, Z. Shi.
1440F Enriched rearing improves behavioral responses
of an animal model for CNV-based autism-like traits.
M. Heney, C. Spencer, W. Gu, R. Paylor, J. Lupski.
1441F Substrate reduction therapy in patients with
juvenile-onset Batten disease due to CLN1 mutations
using cysteamine bitartrate: A pilot study.
M. Velinov,
M. Gavin, G. Y. Wen.
1442F
Peewee
, a novel mutant allele of natriuretic
peptide receptor 2 with skeletal dysplasia and female
infertility.
K. A. Geister, M. L. Brinkmeier, S. A. Camper.
1443F The soluble myostatin inhibitor Act2b(fc)
prevents only certain forms of acquired muscle
atrophy.
E. M. MacDonald, S. J. Lee, R. D. Cohn.
1444F Characterization of a polyalanine antibody for
the diagnosis of oculopharyngeal muscular dystrophy
and other polyalanine related diseases.
S. J.
Stochmanski, F. Blondeau, P. A. Dion, P. S. McPherson, G.
A. Rouleau.
1445F Ex vivo adenoviral-mediated gene therapy:
Phosphatase inhibitors improve gene transduction.
M.
Samson, A.-M. Bessette, M. Drouin, M.-P. Cayer, D. Jung.
1446F Derivation of insulin producing cells from
mesenchymal stem cells.
S. Talebi, A. Aleyasin, M.
Soleimani.
1447F Randomized, placebo-controlled, cross-over
trial of simvastatin in Smith-Lemli-Opitz syndrome.
C.
A. Wassif, S. K. Conley, H. Goodwin, S. E. Sparks, E.
Tierney, F. D. Porter.
1448F Treating inflammatory aspects of Gaucher
disease: Do different ERT choices matter?
O. Goker-
Alpan, S. Kasmani, A. Farwah, T. Taber, O. Alpan.
1449F Treatment with galsulfase results in improved
endurance in a MPS VI patient with history of bone
marrow transplantation in early childhood.
K. Kim, B.
Burton.
1450F Galsulfase enzyme replacement therapy
improves urine GAG excretion and clinical course in
Maroteaux-Lamy syndrome (MPS type VI) after donor-
engrafted bone marrow transplant.
M. L. Raff.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1451F Lithium chloride protects against the toxicity
caused by oculopharyngeal muscular dystrophy.
A.
Abu-Baker, R. Gaudet, J. Laganiere, P. Dion, G. Roulea
1452F Balloon delivery of helper-dependent adenovi
vector results in sustained FIX expression in rhesus
macaques.
N. Brunetti-Pierri, A. Liou, P. Patel, D. Palm
N. Grove, M. Finegold, A. Beaudet, C. Mullins, P. Ng.
1453F Cysteine quantity correction in CADASIL usin
antisense mediated exon-skipping.
J. G. Dauwerse,
A. J. Lesnik Oberstein, D. J. M. Peters, M. H. Breuning,
J. B. van Ommen, A. M. Aartsma-Rus.
1454F Systemic administration of AAV9 gene therap
rescues a Menkes disease mouse model.
A. Donsant
M. Haddad, S. Kaler.
1455F Adeno-associated viral vector 2/8 rescues
retinal degeneration in a mouse model of retinitis
pigmentosa.
K. J. Wert, S. H. Tsang.
1456F Antisense RNA/ethylene-bridged nucleic acid
chimera induces exon 45 skipping in cultured
myocytes from DMD patients with 6 different deletio
mutations.
M. Yagi, T. Lee, H. Awano, Y. Takeshima, M
Matsuo.
1457F Changes in biomarkers in patients with type
Gaucher disease transitioned from imiglucerase to
velaglucerase alfa: Cumulative 2-year results from t
phase II/III trial TKT 034 and extension.
A. Zimran, G.
M. Pastores, A. Tylki-Szymanska, D. Hughes, D. Elstein
R. Mardach, C. Eng, L. Smith, M. Heisel-Kurth, J.
Charrow, P. Harmatz, P. Fernhoff, W. Rhead, N. Longo,
Giraldo, D. Zahrieh, E. Crombez, G. Grabowski.
1458F Abnormal autophagy in mucopolysaccharidos
VII can be rescued by enzyme replacement therapy.
Datta, J. Grubb, A. Waheed, J. Ryerse, W. Sly.
1459F The pharmacological chaperone AT2220
increases the muscle uptake of recombinant human
acid
α
-glucosidase resulting in greater glycogen
reduction in a mouse model of Pompe disease.
J.
Feng, R. Soska, L. Pellegrino, M. Frascella, Y. Lun, J.
Flanagan, D. Guillen, D. Lockhart, K. Valenzano, R.
Khanna.
1460F Oral migalastat HCL (AT1001/GR181314A) is a
investigational therapy evaluated in females with Fa
disease.
P. Fernhoff, R. Giugliani, K. Nicholls, D. P.
Germain, S. Waldek, D. G. Bichet, V. Sniukiene, P.
Boudes.
1461F Improvements in skeletal manifestations in
Gaucher disease type 1 patients after 3 years of
treatment with oral eliglustat during a phase 2 trial.
S. Kamath, E. Lukina, N. Watman, M. Dragosky, M.
Iastrebner, G. Pastores, E. Avila Arreguin, M. Phillips, H.
Rosenbaum, E. Sysoeva, R. Aguzzi, A. C. Puga, M. J.
Peterschmitt, D. I. Rosenthal.