Page 152 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
141
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
Goker-Alpan, G. M. Pastores, B. Rosenbloom, J. Ibrahim,
G. M. Cohn, D. Zahrieh, P. K. Mistry.
769
W Safety and tolerability of velaglucerase alfa
enzyme replacement therapy in patients aged
$
65
years with type 1 Gaucher disease: A multicenter, open
label trial.
J. Ibrahim, G. M. Pastores, B. Rosenbloom, O.
Goker-Alpan, G. M. Cohn, D. Zahrieh, P. K. Mistry.
770
W A double blind, placebo controlled trial of
minocycline in children with fragile X syndrome.
R.
Hagerman, M. J. Leigh, D. V. Nguyen, T. I. Winarni, S.
Rivera, A. Schneider, T. Chechi, D. Hessl.
771
W Enhancing suppression of nonsense mutations
in Duchenne muscular dystrophy.
P. S. Lai, R.
Elangovan, S. K. H. Tay, P. S. Low.
772
W Long-term safety of migalastat HCl in patients
with Fabry disease.
D. P. Germain, R. Giugliani, G. M.
Pastores, K. Nicholls, S. Shankar, R. Schiffmann, D.
Hughes, A. B. Mehta, S. Waldek, A. Jovanovic, K. Benistan,
J. K. Simosky, V. Sniukiene, R. Winkler, P. F. Boudes.
773
W Eliglustat, an investigational oral therapy for
Gaucher disease type 1: Phase 2 results after 4 years
of treatment.
M. J. Peterschmitt, E. Lukina, N. Watman,
M. Dragosky, G. M. Pastores, E. Avila Arreguin, H.
Rosenbaum, A. Zimran, E. Sysoeva, R. Aguzzi, L. H. Ross,
A. C. Puga.
774
W Ammonia control in children ages 2 months
through 5 years with urea cycle disorders: Comparison
of sodium phenylbutyrate and glycerol phenylbutyrate.
W. Smith, G. Diaz, U. Lichter-Konecki, S. A. Berry, C. O.
Harding, S. E. McCandless, C. LeMons, K. A. Dickinson,
D. Coakley, T. Moors, M. Mokhtarani, B. F. Scharschmidt,
B. Lee.
775
W A comprehensive genetic and functional analysis
of a large cohort of patients with Kabuki syndrome:
Suggestions for therapy.
L. Micale, C. Fusco, B. Augello,
M. N. Loviglio, C. Maffeo, M. T. Pellico, L. Zelante, G.
Merla.
776
W Differential effects of ramipril and losartan
therapy on phenotype in mice model for Marfan
syndrome.
B. L. Lima, G. P. Cardozo, G. R. Fernandes, L.
V. Pereira.
777
W Curcumin facilitates a transitory cellular stress
response in Trembler-J mice.
Y. Okamoto, K. Mehrdad,
D. Pehlivan, W. Wiszniewski, G. Snipes, J. Lupski.
778
W Novel therapeutic assays for epidermolysis
bullosa simplex.
J. Lacroix, T. Farez, G. Leclerc, A.
Dupérée, J. Powell, C. McCuaig, C. Morin, V. Legendre-
Guillemin, M. Bchetnia, C. Laprise.
779
W Sodium butyrate and valproic acid as a splicing
restoring agents in erythroid cells of
b
-
thalassaemic
patients.
M. Taghizadeh, S. Mansoori Derakhsham, M.
Shekari Khaniani, A. Hoseinpour Pheysi.
780
W Bisphosphonate therapy in Hajdu-Cheney
K. Momma, F. Funato, Y. K. Hayashi, I. Nonaka, M.
Huizing, W. Gahl, C. F. Boerkoel, I. Nishino, S. Noguchi.
756
W Lysine restricted diet as novel therapy for
pyridoxine dependent epilepsy: First observational
study.
C. van Karnebeek, H. Hartmann, S. Jaggawantru,
J. P. Collet, B. Plecko, S. Stockler, Pyridoxine Dependent
Epilepsy Consortium.
757
W High-fat diet rescues lethality of homozygous
knockin R155H mice with VCP-associated disease.
K. J. Llewellyn, A. Nalbandian, C. Nguyen, V. E. Kimonis.
758
W Serin diet relieves symptoms of hereditary
sensory and autonomous neuropathy type 1A caused
by a c.992 C
.
T, p.(Ser331Phe), mutation in
SPTLC1
.
B. Rautenstrauss, E. Wilichowski, E. Holinski-Feder, T.
Hornemann.
759
W Pilot trial of high-dose carnitine supplementation
in young, non-dysmorphic males with autism spectrum
disorders.
R. Goin-Kochel, F. Scaglia, C. Schaaf, D. Dang,
A. Laakman, K. Nowell, A. L. Beaudet.
760
W Results of the phase II multicenter, single
arm, phase II controlled trial ‘IEDAT-01’.
L. Chessa, V.
Leuzzi, A. Plebani, R. Micheli, A. R. Soresina, I. Quinti, D.
D’Agnano, C. Bozzao, P. Lulli, M. Magnani.
761
W Generation and characterisation of FRDA mouse
model cell lines.
C. Sandi, S. Al-Mahdawi, V. Ezzatizadeh,
S. Virmouni, M. Sandi, M. Pook.
762
W Non-penetrance in RP17? An investigation
into the molecular mechanisms underlying retinitis
pigmentosa 17 with the view to developing novel gene-
based therapies.
A. Pandor, S. Prince, R. Ramesar.
763
W Pharmacological evaluation of a CNP analogue
for the treatment of achondroplasia.
F. Lorget, N. Kaci,
J. Peng, C. Benoist-Lasselin, E. Mugniery, T. Oppeneer, D.
Wendt, S. Bullens, S. Bunting, L. Tsuruda, C. O’Neill, F. Di
Rocco, A. Munnich, L. Legeai-Mallet.
764
W Role of vitamin D in osteoarthritis knee: A six
month double blind, randomized, placebo control trial.
S. R. Nath, D. Sanghi, S. Raj, K. Baghel, A. Mishra.
765
W Use of the amniotic fluid transcriptome to
identify novel antenatal treatments for fetuses affected
with Down syndrome.
F. Guedj, L. Massingham, K.
Johnson, U. Tantravahi, D. Bianchi.
766
W Treatment of basal cell carcinomas with a
hedgehog pathway inhibitor vismodegib in basal cell
nevus syndrome.
A. Treherne, S. Bale, W. Chen, J. R.
Toro.
767
W TGF
b
signaling exerts dimorphic effects on
aortic aneurysm formation and progression in Marfan
syndrome.
L. Carta, J. R. Cook, M. Del Solar, E. Chiu, N.
Clayton, C. Nelson, B. Wentworth, F. Ramirez.
768
W Safety of velaglucerase alafa in type 1 Gaucher
disease patients with anti-imiglucerase antibodies.
O.