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1302T MCAD mutation spectrum in individuals
identified through newborn screening.
A. Millson, A.
Openshaw, E. Lyon.
1303T The KUVAN® Adult Maternal Paediatric
European Registry: Interim results on mutation
frequencies of PKU patients.
A. C. Muntau, F. K. Trefz,
A. Bélanger-Quintana, J. Alm, F. B. Lagler, A. Burlina, B.
Destenaves, F. Feillet on behalf of KAMPER Investigators.
1304T Biotinidase deficiency genotype-enzyme
correlation and a novel BTD mutation database.
Procter, A. Openshaw, D. Crockett, B. Wolf, R. Mao.
1305T ABCA1 R230C variant do not contribute to
dyslipidemia during gestational diabetes.
E. Zamarron-
Licona, M. C. Martinwz-Lopez, F. De La Cruz-Ruiz, J. L.
Cortés-Peñaloza, P. García-Guerra, R. Diaz-Martinez.
1306T Massively parallel sequencing in suspected
patients with mitochondrial disorders reveals multiple
gene mutations unrelated to respiratory chain subunits
or assembly factors.
V. Vasta, R. P. Saneto, J. L. Merritt
II, S. Hahn.
1307T Mechanisms of
predispositions to type
1 diabetes in European and East Asian populations.
Miyadera, K. Tokunaga.
1308T Study of mutation spectrum in patients with
Gaucher's disease from India.
C. Ankleshwaria, M.
Mistri, A. Bavdekar, M. Muranjan, J. Sheth.
1309T Airway obstruction and surgery in
mucopolysaccharidosis type I.
P. Arn, J. E. Wraith, L.
1310T Transcriptional regulation of cellular clearance.
A. Ballabio.
1311T Higher paraoxonase gene polymorphism
frequency among Brazilian Fabry disease patients.
C. Barris-Oliveira, K. B. Müller, L. T. Turaça, J. B.
Pesquero, A. M. Martins, V. D'Almeida.
1312T Skin ultrastructural findings in type 2 Gaucher
disease: Diagnostic implications.
A. Chan, D. Crumrine,
T. Fergusson, O. Goker-Alpan, R. Schiffmann, W. Hollean,
P. Elias, E. Sidransky.
1313T Diffusion tensor imaging and volumetric studies
of the brain in canine mucopolysaccharidosis I.
P. I.
Dickson, J. Provenzale, S. Chen, I. Nestrasil, N. M.
Ellinwood, S. Q. Le, S. Kan, S. Banakar, H. Boutte, E. G.
1314T Mucopolysaccharidosis IVA: A multidisciplinary
P. Harmatz, C. J. Hendriksz, S. Tomatsu, W.
Mackenzie, G. A. Solanki, B. Lee.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1315T Intrathecal hydroxy-propyl-beta-cyclodextrin
reverses hearing loss in identical twin girls with
Niemann-Pick type C disease.
C. A. Hastings, J.
Torkildson, R. Raphael.
1316T Chemical chaperone therapy for
galactosidase deficiency.
K. Higaki, K. Ohno, Y. Suzu
E. Nanba.
1317T Attenuated phenotype in MPS VI (Maroteaux-
Lamy) patients carring the p.R152W mutation.
Jurecka, E. Piotrowska, L. Cimbalistiene, N. Gusina, A.
Rozdzynska, B. Czartoryska, K. Qunap, G. Wegrzyn, A.
1318T Risk factors for fractures and avascular
osteonecrosis in type 1 Gaucher disease: Analysis
from the Gaucher Registry.
A. Khan, T. Hangartner, N.
Weinreb, J. A. Cole, A. R. Gwosdow, J. S. Taylor, P. K.
1319T A mechanistic study of Fabry heart disease
using induced pluripotent stem cells.
X. Meng, J. Sh
N. McNeill, B. Eberendu, R. Brady, R. Schiffmann.
1320T Postnatal and prenatal diagnosis of lysosoma
storage diseases in China.
Y. Meng, W. Zhang, H. Shi
1321T Evaluation of the pattern of X chromosome
inactivation in women with Fabry disease.
K. B. Müll
A. C. Barris-Oliveira, E. S. Ramos, A. M. Martins, V.
1322T Screening for Fabry disease in Japan.
Nakamura, K. Hattori, S. Matsumoto, H. Mitsubuchi, F.
1323T Validation of chitotriosidase determination in
dried blood spots on filter paper as a tool for
screening and monitoring of Gaucher disease patie
in Colombia.
N. Pacheco Fernandez, A. Uribe.
1324T Glycogen clearance by BMN 701 and
alglucosidase alfa in a mouse model of Pompe
J. Peng, R. Cahayag, M. Fox, C. O'Neill.
1325T TFEB links autophagy to lysosomal bigenesis.
C. Settembre, C. Di Malta, V. Polito, M. Arencibia, F.
Vetrini, S. Erdin, D. Medina, M. Sardiello, D. Rubinsztei
A. Ballabio.
1326T Fabry disease mouse model exhibits cardiac
hypertrophy and arrhythmias.
J. Shen, X. Meng, B.
Durant, R. Schiffmann.
1327T Tissue preferential synergistic effect of sapos
A and saposin B on glycosphingolipids degradation
Y. Sun, M. Zamzow, H. Ran, W. Zhang, B. Quinn,
Barnes, K. D. R. Setchell, G. A. Grabowski.