Page 104 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
93
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INVITED AND PLATFORM SESSIONS
Thursday, November 8
10:30
AM
12:45
PM
Concurrent Platform (abstract-driven)
Session B (29-37)
SESSION 37 – Metabolic Disease Discoveries
Room 123, Lower Level North, Moscone Center
Moderators
:
Kimberly Chapman, Children’s Natl. Med.
Ctr.; Hans Andersson, Tulane Univ. Med. Ctr.
160
/10:30
Mutations in
DDHD2
cause recessive
spastic paraplegia with intellectual disability, thin
corpus callosum and periventricular white matter
hyperintensities.
A. P. M. de Brouwer, J. H. M.
Schuurs-Hoeijmakers, E. J. Kamsteeg, S. Ben-Salem,
S. T. de Bot, I. van de Vondervoort, S. Vermeer, J.
Schwartzentruber, B. R. Ali, S. A. Al-Yahyaee, S. Tariq,
T. Pramathan, R. Bayoumi, B. P. van de Warrenburg,
W. M. van den Akker, C. Gilissen, J. A. Veltman, I. M.
Janssen, A. T. Vulto-van Silfhout, S. van der Velde-
Visser, A. Diekstra, C. E. Erasmus, M. A. Willemsen,
L. E. L. M. Vissers, H. van Bokhoven, R. A. Wevers,
L. Al-Gazali, M. T. Geraghty, B. B. A. de Vries.
161
/10:45
Lipidomics of Gaucher disease:
Substrate composition and nature is dependent on
tissue/region and acid -glucosidase mutations:
Phenotypic implications.
Y. Sun, W. Zhang, Y. Xu,
B. Quinn, N. Dasgupta, B. Liou, K. D. R. Setchell,
G. A. Grabowski.
162
/11:00
Sterol precursors induce Niemann-Pick C
disease phenotypes in Smith-Lemli-Opitz syndrome
causing defective LDL-cholesterol utilization that
is corrected by imino-sugars.
C. A. Wassif, E. Lloyd-
Evans, L. J. Haslett, I. M. Williams, C. L. Toth, F. D.
Porter, F. M. Platt.
163
/11:15
Glucose kinetics in subjects with MELAS
syndrome: Interim results.
L. Emrick, A. El-Hattab,
J. Hsu, F. Jarhoor, F. Scaglia, W. Craigen.
164
/11:30
Phenylbutyrate therapy for pyruvate
dehydrogenase complex deficiency.
R. Ferriero,
E. Lamantea, P. W. Stacpoole, L. Bonafè, B. Lee,
M. Zeviani, N. Brunetti-Pierri.
165
/11:45
Etiologies for neurocognitive delays in
argininosuccinic aciduria.
A. Erez, S. Nagamani, P.
Campeau, O. Shchelochkov, J. Kho, K. Bissig, Q. Sun,
N. Bryan, S. Cederbaum, B. Lee.
166
/12:00
Enzyme substitution therapy for
phenylketonuria delivered orally using a genetically
modified probiotic: Proof of principle.
J. Christodoulou, N. Al-Hafid, X.-Z. Tong, K. Carpenter,
V. Wiley, S. Cunningham, I. E. Alexander.
167
/12:15
A new inborn error of manganese
metabolism caused by mutations in
SLC30A10
,
a newly identified human manganese transporter.
K. Tuschl, P. T. Clayton, S. M. Gospe, Jr., S. Gulab, S.
Ibrahim, P. Singhi, R. T. Ribeiro, M. S. Zaki, M. Luz del
Rosario, S. Dyack, V. Price, R. A. Wevers, P. B. Mills.
168
/12:30
Combined methylmalonic acidemia and
homocystinuria, cblC type: A prospective clinical
protocol focusing on neurologic and
neurodevelopmental parameters in a cohort of pre-
school children diagnosed on expanded newborn
screening.
J. D. Weisfeld-Adams, H. A. Bender, A. M.
Akerstedt, E. Miles-Mason, T. P. Naidich, S. Lipson,
T. Bottiglieri, S. P. Young, G. A. Diaz.