Page 223 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2386
F Therapeutic hypothermia for hyperammonemic
metabolic crises: A pilot study.
U. Lichter-Konecki, J.
Poeschl, D. Dimmock, S. Baumgart.
2387
T Polymyositis: A common misdiagnosis for late
onset Pompe disease.
V. Kasturi, S. Jain, V. Juel, P.
Kishnani.
2388
F Emerging next-generation therapies for Pompe
disease.
R. J. Moreland, K. M. Taylor, A. McVie-Wylie, N.
P. Clayton, B. M. Wentworth, R. K. Scheule, S. H. Cheng.
2389
T Efficacy of long-term velaglucerase alfa on
hematological and visceral parameters in treatment-
naïve patients with type 1 Gaucher disease.
A. Zimran,
I. Kisinovsky, E. A. Lukina, D. Elstein, D. Zahrieh, E.
Crombez, P. Giraldo.
2390
F Delivery of
a
-
N
-
acetyl-glucosaminidase
via choroid plexus-directed viral gene therapy as
an enzyme replacement in cerebrospinal fluid fo
Sanfilippo B synd ome.
S.-H. Kan, S. Q. Le, M. R.
Haddad, E.-Y. Choi, A. Donsante, S. G. Kaler, P. I.
Dickson.
2391
T Humoral immune response against enzyme
replacement therapy alters enzyme distribution in
mucopolysaccharidosis I mice.
S. Q. Le, S.-H. Kan,
M. Vera, Y. Herskovitz, M. Srour, P. I. Dickson.
2392
F Lysosomal Disease Network.
C. B. Whitley, B.
Diethelm-Okita, J. R. Utz, J. C. Cloyd, D. C. C. Erickson,
E. Shapiro, Investigators of Lysosomal Disease Network.
2393
T The effect of citrulline and arginine
supplementation on lactic acidemia in MELAS
syndrome.
A. El-Hattab, L. Emrick, W. Williamson, W.
Craigen, F. Scaglia.
2394
F Phenylbutyrate for therapy of pyruvate
dehydrogenase complex deficienc .
R. Ferriero, A.
Bourton, L. Bonafé, M. Baumgartner, D. Kerr, E. Morava,
R. Rodenburg, M. Brivet, N. Brunetti-Pierri.
2395
T A novel mutation in
GLUD1
causing
hyperinsulinism hyperammonemia in a patient
with high density of homozygosity on microarray.
J. D. Odom, M. Gieron-Korthals, D. Shulman, P. Newkirk,
E. J. Prijoles, A. Sanchez-Valle.
2396
F Pathogenic study of mitochondrial complex I
deficiency and Leigh synd ome in
Drosophila
model.
Z. Li, K. Zhang, J. Guan, C. Haueter, H. Sandoval,
H. Bellen, B. Graham.
2397
T Long-term follow up of 15 patients with
methylmalonic acidemia following solid organ
transplantation.
J. L. Sloan, I. Manoli, C. P. Venditti.
2398
F Neuroimaging and neuropathology reveal
dysmyelination in canine mucopolysaccharidosis I.
P. Dickson, J. Provenzale, S. Chen, I. Nestrasil, S.-H. Kan,
S. Q. Le, E. Lotshaw, J. Jens, J. Yee, N. M. Ellinwood, M.
A. Guzman, C. Vite, V. Kovac, E. G. Shapiro.
2372
F Distinctive neurocognitive and neuropsychiatric
phenotype for mucopolysaccharidosis type I (Hurler-
Scheie syndrome) associated with mutation L238Q of
the alpha-L-iduronidase gene.
A. Ahmed, C. Whitley, R.
Cooksley, E. Shapiro.
2373
T Oral manifestations in a patient with infantile
onset Pompe disease: Newly recognized findings
L. S. Kehoe, T. Anupama, P. Kantaputra.
2374
F Assessment of bone mineral density by
dual energy X-ray absorptiometry in patients with
mucopolysaccharidoses.
H. Lin, S. Lin, C. Chuang,
M. Chen, D. Niu.
2375
T A retrospective review of the natural course of
mucopolysaccharidosis VII.
A. Montano, N. Lock-Hock,
R. Steiner, B. H. Graham, M. Szlago, R. Greenstein, M.
Pineda, A. Gonzalez-Meneses, M. Çoker, D. Bartholomew,
M. Sands, R. Wang, R. Giugliani, A. Macaya, G. Pastores,
A. K. Ketko, F. Ezgü, A. Tanaka, L. Arash, M. Beck, R. E.
Falk, K. Battacharya, J. Franco, K. White, G. Mitchell, L.
Cimbalistiene, W. S. Sly.
2376
F Cobalamin C disease with fulminant
hyperammonemic presentation in the neonatal period.
N. S. Abul-Husn, A. C. Yang, C. Yu, H. Chen, G. A. Diaz, J.
D. Weisfeld-Adams.
2377
T Molecular analysis of patients diagnosed as
cblC
.
A. Brebner, D. Watkins, D. S. Rosenblatt.
2378
F Glycemic deregulation in congenital central
hypoventilation syndrome.
F. Moreau, K. Braun, J. Amiel,
T. Dery, G. Jedraszak, S. Goudjil, G. Kongolo, H. Trang,
P. De Lonlay, M. Mathieu, A. Leke, G. Morin.
2379
T Fabry disease in Northern Ireland.
F. J. Stewart,
A. Muir, J. McOsker, T. Jardine, A. Wilson, P. McKeown.
2380
F Hepatocerebral mitochondrial DNA depletion
syndrome with atypical brain MRI findings due to
heterozygote mutations in the
MPV17
gene including
a novel mutation: clinical, biochemical and molecular
analysis.
A. Iglesias.
2381
T Genetic associations with neonatal acylcarnitine
levels.
C. J. Smith, A. M. Momany, S. L. Berberich, J. L.
Murray, K. K. Ryckman.
2382
F Presenting optional newborn screening in the
context of mandatory newborn screening: The case of
Duchenne muscular dystrophy.
S. E. Lillie, B. A. Tarini,
B. J. Zikmund-Fisher.
2383
T Lysosomal disease newborn screening in Mexican
population.
J. Navarrete, A. Rivera, A. Limon, E. Covian.
2384
F Enhancing case detection of selected inherited
disorders through expanded newborn screening in the
Philippines.
C. Padilla.
2385
T Hyposialylation in glomerulopathies is mitigated
by N-acetylmannosamine therapy.
M. Huizing, M.
C. Malicdan, P. Leoyklang, O. Okafor, T. Yardeni, M. F.
Starost, P. M. Zerfas, Y. Anikster, A. Volkov, B. Dekel, J. B.
Kopp, W. A. Gahl.