Page 151 - ASHG 2012 Annual Meeting Program Guide

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POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
742
T Sapropterin treatment for toddlers with PKU.
N.
L. Pallone.
743
F Ubiquinol preparations are numerous and
selection of appropriate mitochondrial supplement
requires careful scrutiny by family and doctor.
N. Franklin, A. Perszyk.
744
T The role of N-acetylcysteine in treating
mitochondrial liver disease.
A.-K. Niemi, G. M. Enns.
745
F Phase 3 study of migalastat HCl for Fabry
disease: Stage 1 results.
K. Nicholls, C. Feliciani, S.
Shankar, F. Ezgu, S. G. Janmohamed, S. M. Laing, R.
Schroyer, A. C. Bragat, S. Sitaraman, V. Sniukiene, R. E.
Winkler, P. Boudes.
746
T Differential risk for Parkinson disease in males
and females with Gaucher disease.
D. Elstein, R.
Alcalay, T. Dinur, G. Altarescu, E. Ben-Chetrit, A. Zimran.
747
F Potential cluster of MPS IV A in Northeast Brazil.
F. Kubaski, A. C. Brusius-Facchin, P. F. V. Medeiros, C. S.
E. Gondim, R. Giugliani, S. Leistner-Segal.
748
T Persistent thrombocytopenia in type I Gaucher
disease: Evaluation and management.
H. Rosenbaum.
749
F Chemotactic factors critical for increased
immunological cell invasion in Gaucher disease mice.
M. K. Pandey, N. A. Jabre, G. A. Grabowski.
750
T Systematic screening for treatable inborn errors
of metabolism in intellectual disability patients: First
study results.
S. Stockler, R. Salvarinova, G. Horvath,
Y. Lillquist, H. Vallance, S. Sinclair, M. Lafek, T. Murphy,
A. Lehman, M. Patel, M. Demos, M. Connolly, C. van
Karnebeek, TIDE BC, Treatable Intellectual Disability
Endeavor in British Columbia.
751
F A novel homozygous mutation in EARS2 causing
a fatal multisystem infantile disease.
A. Pyle, B.
Talim, H. Griffin, H. Topaloglu, M. Santibanez-Koref, P. F.
Chinnery, R. Horvath.
752
T Novel phenotype associated with
OPA
mutations?
M. Tesarova, V. Stranecky, H. Kratochvilova, Z. Hajkova,
J. Sladkova, J. Spacilova, H. Hansikova, T. Honzik, H.
Hartmannova, L. Noskova, L. Piherova, E. Lalonde, J.
Majewski, S. Kmoch, J. Zeman.
753
T Evaluating pain, negative mood, and resilience
in patients affected by Fabry disease.
A. M. Lelis, R.
Duran, L. Beckman, J. Garbanati, W. Wilcox, J. Mirocha.
Therapy for Genetic Disorders
754
W Comparison of the differentiation potential of
human mesenchymal stem cells and several animal
species.
F. Piryaei, M. Ramezani, M. Kadivar, F. Piryaei.
755
W Bone marrow-derived cells as a stable source of
sialic acid for mice with GNE myopathy.
M. C. Malicdan,
early neonatal period to screen for Menkes disease.
M.
Yagi, N. Kusunoki, T. Lee, H. Awano, T. Yokota, A. Miwa, A.
Shibata, I. Morioka, Y. Takeshima, K. Iijima.
730
T Correlation of phenylalanine concentration with
neuropsychiatric symptom scores in phenylketonuria
patients.
T. Morgan, N. Owen, A. Bawcom, G. Wey, L.
Ashford, J. Phillips.
731
F A rare disease–simple treatment: Sepiapterin
reductase deficiency with a novel mutation.
I. M. Zamir,
B. Ben-Zeev, A. Mimouni-Bloch, S. Msilaty-Gross, Y.
Anikster.
732
T A phase 2a study to investigate the effects of
a single dose of migalastat HCl, a pharmacological
chaperone, on alpha-Gal A activity in subjects
with Fabry disease.
F. K. Johnson, P. N. Mudd, Jr., S.
Sitaraman, R. Winkler, J. Flanagan, R. Khanna, K. J.
Valenzano, D. J. Lockhart, P. Boudes on Behalf of Study
AT1001-013 Principal Investigators.
733
F A novel drug target site for medium chain acyl-
CoA dehydrogenase deficiency: Implications for future
drug therapy.
H. Kang, J. Vockley, A.-W. Mohsen.
734
T Immune response against enzyme
replacement therapy alters enzyme distribution in
mucopolysaccharidosis I mice.
S. Le, S.-H. Kan, M.
Vera, P. Dicskon.
735
F Hepatic gene transfer of
TFEB
results in
clearance of mutant alpha-1-antitrypsin.
N. Pastore, P.
Piccolo, F. Annunziata, R. M. Sepe, F. Vetrini, D. Palmer, P.
Ng, K. Blomenkamp, J. Teckman, A. Ballabio, N. Brunetti-
Pierri.
736
T Neuronal differentiation of induced pluripotent
stem cells from Gaucher disease fibroblasts.
J. B.
Florer, C. N. Mayhew, Y. Sun, G. A. Grabowski.
737
F Resveratrol and bezafibrate both dramatically
induce transcription of aspartoacylase: A potential
new treatment for Canavan disease?
B. S. Andresen, T.
K. Doktor, J. O. Sass, J. Bastin, F. Djouadi, T. J. Corydon,
E. Christensen, A. M. Lund, H. S. Andersen.
738
T The ingestion of a high protein diet during
gestation magnifies the in vivo production of
metabolites in MMA mice in utero.
D. Brown, J. Senac,
J. Sloan, I. Manoli, C. Venditti.
739
F Danshen extract regulates energy metabolism by
activating the AMPK-SIRT1-PGC-1
a
.
Y. H. Cho, C. R.
Ku, H. Lee, E. J. Lee.
740
T Protocols for sick day management and
emergency interventions for mitochondrial disorder
patients are important for family education, treatment
and support.
M. Fredrich, A. Perszyk.
741
F High fat diet paradoxically improves cold
survival in a mouse model of medium-chain acyl-CoA
dehydrogenase deficiency.
S. E. McCandless, L. Rice,
C. L. Hoppel.