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1297F Ethylmalonic encephalopathy: Case report of a
long-surviving patient with a mild course and atypical
neurologic presentation.
A. Kwan, T. M. Cowan, K.
Cusmano-Ozog, P. Rinaldo, V. Tiranti, G. E. Enns.
1298F Infantile sialic acid storage disease: Two
unrelated Inuit cases homozygous for a common novel
SLC17A5
mutation.
M. A. Lines, T. Rupar, B. Baskin, P.
Ray, D. Grynspan, J. Michaud, M. T. Geraghty.
1299F Atypical presentations: Fabry disease in a 12-
year-old female and 55-year-old male.
J. MacKenzie, I.
Young, A. Jin, J. Garland, M. T. Geraghty.
1300F Transdifferentiation of patient fibroblasts for the
study of tissue-specific mitochondrial respiratory chain
disorders.
M. Menezes, L. Riley, S. Cooper, D. Thorburn,
J. Christodoulou.
1301F A new patient with the cblD cobalamin disorder
presenting with high homocysteine.
J. A. J. Raiman, I.
R. Miousse, D. Watkins, D. S. Rosenblatt.
1302F Response to creatine supplementation in 2 boys
with X-linked creatine transporter deficiency with
residual creatine peak on MR spectroscopy.
D.
Renaud, A. Boetticher, E. Wirrell.
1303F Hereditary renal hypouricemia caused by
deletion in human urate transporter 1.
I. Sebesta, B.
Stiburkova, K. Ichida, M. Hosoyadama.
1304F Effects of PPARG, APOE, ACE, LPL, IL-6 and
AT1R gene variants on development of metabolic
syndrome.
J. Sertic, J. Lovric, T. Bozina, N. Bozina, B.
Jelakovic, Z. Reiner.
1305F Long chain acyl-CoA dehydrogenase deficiency:
A new inborn error of metabolism manifesting as
congenital surfactant deficiency.
J. Vockley, K. Suhrie,
A. Karunanidhi, W. Mohsen, M. Reyes-Mugica.
1306F Multicopy suppressors screening in
Saccharomyces cereviseae
lacking aspartate-
glutamate carriers.
P. Wongkittichote, LT. Jensen, S.
Tungpradapkul, D. Wattanasirichaigoon.
1307F Carnitinepalmitoyltransferase II deficiency —
Cinical phenotypes, mutations and polymorphisms.
B.
Z. Yang, S. A. Greene, N. McNeill, J. M. Pascual, J. H.
Ding.
1308F Acute intermittent porphyria: A severely affected
knock-in mouse that mimics the human homozygous
dominant phenotype.
M. Yasuda, C. Yu, J. Zhang, S.
Clavero, W. Edelmann, L. Gan, J. D. Phillips, R. J.
Desnick.
1309F Formation of the multienzyme complex of the
de novo purine synthesis in adenylosuccinate lyase
deficiency and AICA-ribosiduria.
M. Zikanova, V.
Baresova, V. Skopova, S. Kmoch.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1310F Cell selection in mosaic cell lines from femal
with Menkes syndrome.
L. B. Møller, M. Lenartowicz,
G. Jensen.
1311F Involvement of islet expressed micro RNA
regulation in T2D susceptibility risk.
M. van de Bunt,
J. Gaulton, I. Moran, P. R. V. Johnson, A. L. Gloyn, J.
Ferrer, M. I. McCarthy.
1312F A novel mutation in the
MT-ATP8
gene
associated with cerebellar atrophy, retinitis
pigmentosa, polineuropathy, and hearing loss.
A.
Blazquez, M. Moran, A. Moreno, A. Delmiro, L. Rufian,
Rivera, J. Arenas, M. A. Martin.
1313F Normal urinary methylmalonic acid does not
rule out
SUCLA2
-related mitochondrial DNA depleti
syndrome.
D. C. Buhas, D. D'Agostino, N. Braverman.
1314F The use of next-generation sequencing for th
development of the mitochondria disorder clinical
assays.
S. Dames, T. Wayman, J. Stocks, J. Durtschi,
Singleton, P. Ridge, K. Eilbeck, R. Mao.
1315F Succinyl-CoA ligase deficiency in the mouse i
a model for mitochondrial disease with mtDNA
depletion.
B. H. Graham, T. R. Donti, N. K. Hawkins, M
Ge, K. W. Eldin.
1316F Relationship of mitochondrial heteroplasmy a
variation with childhood obesity in European and
African Americans.
S. F. A. Grant, J. T. Glessner, J. P.
Bradfield, J. Zhao, J. E. Tirone, R. I. Berkowitz, H.
Hakonarson, N. Sondheimer.
1317F Metabolic interventions reduce mitochondrial
dysfunction in a neuronal model of MELAS.
V.
Procaccio, V. Desquiret-Dumas, N. Gueguen, M. Barth,
Chevrollier, P. Guardiola, S. Hancock, D. C. Wallace, P.
Amati-Bonneau, D. Henrion, D. Bonneau, P. Reynier.
1318F Renal manifestations in mitochondrial
cytopathies: About a series of 55 patients.
M. Rio, O.
Boyer, A.-S. Lebre, P. Niaudet, A. Rotig, A. Munnich.
1319F Exome analysis reveals new genes for
mitochondrial disorders of early childhood.
A.
Suomalainen, T. Tyni, P. Isohanni, J. Elo, P. Ellonen, H.
Pihko, H. Tyynismaa.
1320F Large-scale deletions on 22q13.33 and 12q24.
detected in patients with mitochondrial disorders.
M
Tesarova, A. Vondrackova, K. Vesela, K. Vinsova, V.
Stranecky, T. Honzik, H. Hansikova, J. Zeman.
1321F A new mouse model for the R653Q variant of
MTHFD1, a trifunctional folate enzyme.
K. E.
Christensen, L. Deng, C. Perugino, O. V. Malysheva, E.
Arning, T. Bottiglieri, N. I. Krupenko, M. A. Caudill, R. E.
MacKenzie, R. Rozen.