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1291W TIDE-BC: Implementation of an evidence-based
protocol to identify treatable metabolic disorders
causing intellectual disability.
C. van Karnebeek, S.
1292W Five maple syrup urine disease case reports in
a 16-year period of time at the Hospital para el Nino
Poblano, Mexico.
H. Velazquez, J. Aparicio, M. L.
Hurtado, I. Marroquin, A. G. Rojas, P. Concha, F.
Gutierrez, R. Herrera, E. Huitzil.
1293W Hypertrophy of the clava, a new MRI sign in
patients with PLA2G6 mutations.
A. Al Maawali, G.
Yoon, W. Halliday, J. T. R. Clarke, A. Feigenbaum, B.
Banwell, D. Chitayat, S. Blaser.
1294W Unraveling the leukodystrophies: Clinical,
biochemical and molecular studies of sixty Brazilian
patients with genetic white matter disorders.
Lourenco, G. N. Simão, A. C. Santos, C. A. R. Funayama,
C. Sobreira, W. Marques, Jr.
1295W Identification of a novel cause of autosomal
dominant, adult-onset distal myopathy.
M. C. Malicdan,
C. F. Boerkoel, Y. Huang, J. Kwan, C. Groden, W. A. Gahl,
C. Toro.
1296W Mucopolysaccharidosis: Otorhinolaringological
and audiological evaluation and treatment.
J. C. Neto,
L. S. Ikari, J. C. Bertoncello, M. G. Andrade, S. M.
Marone, B. B. Taguchi, J. A. Francisco.
1297W Gene expression aberrations in brains of CLN3
deficient mice suggest possible pathways in juvenile
Batten disease.
N. Dolzhanskaya, M. Velinov.
1298W Association between a new 3216-3217 delGA
mutation in AGL gene and common haplotype in
Tunisian population: Evidence for a founder effect.
Gribaa, A. Mili, I. Ben Charfeddine, O. Mamai, L. Adala, T.
Ben Lazreg, A. Amara, J. Bouguila, D. H'mida, K. Limem,
A. Saad.
1299W Characterization of biomarkers during
investigative therapy of hydroxy-propyl-beta-
cyclodextrin in Niemann-Pick type C disease.
D. W.
Killilea, J. Suh, N. Mattsson, H. Zetterberg, E. Portelius, K.
Blennow, Y. H. Hung, A. I. Bush, C. A. Hastings.
1300W Abnormal metabolomic profiles in pregnancies
complicated by small-for-gestational-age.
M. Shinawi,
D. Dietzen, A. Odibo, A. Gronowski, K. Moley.
1301W Correlation assessment among clinical
phenotypes, expression analysis and molecular
modeling of 14 uncharacterized mutations in the
human galactose-1 phosphate uridylyltransferase
M. Tang, A. Facchiano, R. Rachamadugu, F.
Calderon, R. Mao, L. Milanesi, A. Marabotti, K. Lai.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1302W Transcobalamin deficiency: A treatable
metabolic cause of severe pancytopenia and recurr
Y. J. Trakadis, T. Rupar, S. Melancon, A.
Alfares, B. Schrewe, D. Watkins, D. S. Rosenblatt, N.
1303W Additive effect of variants in TNFRSF11A and
TNFRSF11B genes in the etiopathogenesis of Paget’
disease of bone.
F. Gianfrancesco, G. Morello, D.
Rendina, T. Esposito, D. Merlotti, M. Di Stefano, S.
Gallone, R. Nuti, P. Strazzullo, G. Isaia, L. Gennari.
1304W New cellular models for MPS IVA and LINCL
lysosomal storage disorders using patient specific
induced pluripotent stem cells.
A. Swistowski, M.
Richards, M. Vellard.
1305W First clues of a possible inflammation proces
in MPS IVA (Morquio): Keratan sulfate-induced
macrophage activation.
Y. Zhu, M. Vellard.
1306W Genome-wide expression profiling in the
Sjögren-Larsson syndrome.
J.-B. Roullet, S. Impey, Q
Yang, R. D. Steiner, W. Rizzo.
1307W Genetics variants implicated in COPII-mediat
vesicle formation in chylomicron retention disease.
Sanchez, E. Levy, C. Garofalo, D. Sinnett.
1308W Evaluation of endothelial function by
endothelial pulse amplitude testing in patients with
S. Yano, K. Moseley.
1309W Generation of a mouse model of the attenuat
type I form of sialidosis.
E. Bonten, G. Yogalingam, H.
Hu, E. Gomero, A. d'Azzo.
1310W Genes mediating natural variation in ER stre
C. Y. Chow, M. F. Wolfner, A. G. Clark.
1311W Plasmalogen deficiency in the PEX7
hypomorphic mouse, a model for rhizomelic
chondrodysplasia punctata, causes neonatal lethalit
associated with abnormalities in late lung maturatio
W. Cui, X. He, S. Jiralerspong, G. Nimmo, Y. Chen, J.
Hacia, S. Steinberg, A. Moser, N. Braverman.
1312W Missense mutations in the hemochromatosis
(HFE) gene are genetic risk factors for secondary
J. A. Di Battista, V. Martelli, P.
Panopolis, J. Antoniou, M. Sebag, B. Gilfix, H. A. Mena
1313W Case report: Cerebrotendinous xanthomatosi
(sterol 27-hydroxylase deficiency).
F. Hadipour, Z.
Hadipour, P. Sarkhail, M. Noruzinia, Y. Shafeghati.
1314W Innate immunity and Toll-like receptors in
lysinuric protein intolerance.
J. Kurko, M. Tringham, L
Tanner, K. Näntö-Salonen, H. Niinikoski, M. Vähä-Mäkil
O. Simell, J. Mykkänen.