Page 222 - ASHG 2013 Program Guide

POSTER SESSIONS
  209
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2359
T New dominant
ALDH18A1
mutation in two
unrelated children with neurodevelopmental delay,
cataracts, cutis laxa, and intracranial arterial
tortuosity.
J. Ganesh, A. E. Lin, I. Sahai, E. H. Zackai,
S. Chadwick, T. L. Toler, P. H. Byers, U. Schwarze.
2360
F Molecular characterization of known mutations
in congenital adrenal hyperplasia patients (
CYP21A2
gene): Genetic and diagnostic implications.
R. Khajuria,
A. Kumar, D. Pal, U. Sharma, A. Bhansali, R. Walia, R.
Prasad.
2361
T Spectrum of hyperhomocysteinemia in the
pediatric and adolescent age group with
MTHFR
genotype in a North Indian cohort.
A. Lomash, S. Kumar,
S. Kumar Pandey, A. Singh, S. Kumar Polipalli, S. Kapoor.
2362
F A homozygous
UQCRC2
mutation causes a
neonatal onset metabolic decompensation due to
complex III deficienc .
N. Miyake, S. Shoji, Y. Goto, N.
Matsumoto.
2363
T Assaying interallelic complementation in vivo at
the Mut locus with adeno-associated (
AAV
)
viral gene
delivery.
J. S. Sénac, C. P. Venditti.
2364
F A molecular genetic study of Japanese families
of creatine transporter deficienc .
T. Wada, M.
Tachikawa, S. Ohtsuki, S. Itoh, H. Shimbo, H. Osaka.
2365
T Epidemiological studies of
POLG
mutations in
Polish patients with mitochondrial disease of unknown
etiology: Preliminary data.
D. Piekutowska-Abramczuk,
J. Trubicka, S. Łuczak, P. Kowalski, D. Jurkiewicz, E. Ciara,
M. Borucka-Mankiewicz, M. Pelc, M. Krajewska-Walasek,
E. Pronicka.
2366
F A synonymous polymorphic variation in
ACADM
exon 11 affects splicing efficiency and may a fect fatty
acid oxidation.
G. H. Bruun, T. K. Doktor, B. S. Andresen.
2367
T Patients affected with Fabry disease have an
increased prevalence of Raynaud’s phenomenon:
An investigation of 222 patients.
D. P. Germain, O. I.
Atanasiu, A. Cordier, K. Benistan.
2368
F Natural history of gangliosidosis, and
therapeutic interventions.
J. Utz, R. Zeigler, J. Raymond,
P. Karachinski, C. B. Whiltey.
2369
T Biochemical and hematologic laboratory studies
in a cohort of patients with Barth syndrome.
H. Vernon,
R. McClellan, A. Cordova, R. Kelley, Y. Sandlers.
2370
F The emerging natural history of cross-reactive
immunologic material-negative infantile Pompe
disease patients treated with recombinant human
GAA.
K. B. Sheets, S. G. Banugaria, S. M. DeArmey, D. S.
Bali, C. W. Rehder, P. S. Kishnani.
2371
T Hepatic adaptations during infection:
Implications for inborn errors of metabolism.
P.
McGuire, L. N. Singh, S. Matsumoto, K. Saito, T. N.
Tarasenko.
2345
T Mutational analysis of
ATP7B
gene in
19
Vietnamese patients with Wilson disease.
H. Cam
Tu, T. Thinh Huy, T. Tue Nguyen, P. Le Anh Tuan, T. Van
Thanh, T. Van Khanh.
2346
F Intellectual disability and movement disorder
caused by a homozygous mutation in N-glycanase
(
NGLY1) gene: A novel disorder of glycoprotein
metabolism.
M. A. Jones, C. da Silva, A. Bibb, S. Warren,
M. He, M. R. Hegde, M. J. Gambello.
2347
T Comprehensive molecular investigation of
the pathologial effects of Menkes disease missense
mutations.
L. B. Møller, T. Skjørringe, S. S. Thorborg.
2348
F The effect of homozygous deletion of
BBOX1
gene on carnitine level and fatty acid beta-oxidation.
A.
Rashidi-Nezhad, S. Talebi, S. M. Akrami, A. Reymond.
2349
T Glycerol kinase transgenic mice have increased
risk for obesity.
C. Ho, A. Badjatiya, K. M. Dipple.
2350
F Novel heterozygous and homozygous mutations
in the gap junction protein gamma-2 (
GJC2
)
gene.
G.
Hobson, D. Stubbolo, N. Manolakos, V. Funanage.
2351
T Arylsulfatase A deficiency in Thai MLD patients
S. Nujarean, L. Thampratankul, L. Choubtum, D.
Wattanasirichaigoon.
2352
F Unexpected findings of hexosaminidase
B deficiency in a 39-y -old asymptomatic female
identified during outine carrier screening for Tay-
Sachs disease.
A. Schneider, R. B. Keep, M. Sobel, J.
Liao, C. Yu, R. Kornreich.
2353
T Comprehensive mutation screening of the
AGXT
gene in patients with primary hyperoxaluria type-1.
S.
Khaliq, A. Abid, S. Shahid, S. Hashmi, S. Sultan, T. Aziz, S.
A. H. Rizvi, S. Q. Mehdi.
2354
F Mutation of the iron-sulfur cluster
assembly
IBA57
gene causes lethal myopathy and
encephalopathy.
N. Ajit Bolar, A. V. Vanlander, C. Wilbrecht,
N. Van der Aa, J. Smet, B. De Paepe, G. Vandeweyer, F.
Kooy, F. Eyskens, E. De Latter, G. Delanghe, P. Govaert, J.
G. Leroy, R. Lill, R. Van Coster, L. Van Laer, B. Loeys.
2355
T Genetic variation in a gene involved in
glycosphingolipid biosynthesis.
O. M. Amaral, A. J.
Duarte, E. Pinto, I. Ribeiro, L. Lopes, D. Ribeiro.
2356
F A zebrafish model of cblC disease displays
growth retardation that improves with vitamin
B12 therapy.
N. P. Achilly, J. L. Sloan, K. S. Bishop, M. S.
Jones, V. J. Hoffman, R. B. Sood, C. P. Venditti.
2357
T Identification of a novel mutation in the
human
ARSB
gene on chromosome 5q14.1 for
muchopolysacharidosis type VI patients in southwest
Colombia.
M. A. Acosta Aragón, J. R. Lago, F. Barros,
A. M. Carracedo Alvarez.
2358
F Two novel mutations in acid
a
-
glucosidase gene
in two patients with Pompe disease.
A. Aykut, H. Onay,
M. Kose, E. Erbas Canda, E. Karaca, M. Coker, F. Ozkinay.