Page 221 - 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
2333
T Mucopolysaccharidosis IVA (Morquio A) molecular
analysis: A review of the advantages and limitations of
molecular testing of GALNS in the diagnosis of Morquio
A.
M. Hegde, M. Al Sayed, A. Brusius-Facchin, H. Church,
M. J. Coll, M. Fietz, L. Gort, F. Kubaski, D. K. Jin, L. Lacerda,
S. Leistner-Segal, A. Morrone, S. Pajares, L. Pollard, I.
Ribeiro, F. J. Tsai, K. L. Tylee, N. Miller.
2334
F Practical strategies for the identification of
common mutations in mucopolysaccharidosis IVA
patients.
F. Kubaski, A. C. Brusius-Facchin, P. F. V.
Medeiros, R. Giugliani, S. Leistner-Segal.
2335
T Oligosaccharides as biomarkers for
mucopolysaccharidosis IVA.
G. Asif, L. Arthur, E.
Woolley, X. Li, M. He.
2336
F Biochemical, molecular, and clinical
presentations of 3 patients with X-linked epsilon-
trimethyllysine hydroxylase deficienc , a disorder
of carnitine biosynthesis associated with autism
spectrum disorder.
M. Comeaux, C. Schaaf, A. Petel, Y.
Yang, F. Scaglia, A. Beaudet, S. Elsea, Q. Sun.
2337
T Detection of 4-hydroxy-2-oxoglutarate aldolase
metabolites in urine for the diagnosis and monitoring
of primary hyperoxaluria type III.
L. Hasadsri, P. Loken,
D. Gavrilov, D. Matern, K. Raymond, P. Rinaldo, S.
Tortorelli, D. Oglesbee.
2338
F Unraveling mitochondriopathies by exome
sequencing.
L. S. Kremer, T. B. Haack, R. Kopajtich, B.
Haberberger, C. A. Biagosch, T. Wieland, T. Schwarzmayr,
A. Walther, T. M. Strom, J. A. Mayr, W. Sperl, M. Zeviani, P.
Freisinger, T. Klopstock, R. W. Taylor, A. Rötig, A. Munnich,
U. Ahting, M. B. Hartig, J. A. M. Smeitink, G. F. Hoffmann,
A. Lombes, T. Meitinger, H. Prokisch.
2339
T Diagnosis of adrenoleukodystrophy using liquid
chromatography-mass spectrometry.
M. Kosuga, H.
Nakajima, K. Kida, J. Fujimoto, T. Okuyama.
2340
F Creatine deficiency due to targeted disruption
of alanine:glycine amidinotransferase leads to learning
and memory deficits
W. Craigen, Y. Lai, M. Costa-
Mattioli, L. Stoica, P. J. Zhu, L. Mbye.
2341
T Somatic mosaicism with reversion to wild
type in congenital disorder of glycosylation, type IIb.
H. Vega, L. Wolfe, D. R. Adams, M. He, S. Rosenzweig,
W. A. Gahl, C. Boerkoel.
2342
F The clinical and mutation spectrum of Korean
patients with urea cycle disorders.
H. W. Yoo, B. H. Lee,
G. H. Kim, J. M. Kim, Y. M. Kim, J. H. Kim.
2343
T Leigh syndrome and myoclonic epilepsy caused by
novel mutation in
AIMF1
gene.
T. Honzik, A. Vondrackova,
V. Stranecky, M. Rodinova, H. Kratochvilova, H. Hansikova,
P. Klement, M. Magner, S. Mazurova, J. Zeman, M. Tesarova.
2344
F Reduced levels of ATP7A protein in a male child
with subtle features of Menkes disease in the absence of
ATP7A
mutation suggest a novel defect in transcriptional
regulation associated with a unique disorder of copper
metabolism.
K. Patel, G. Golas, D. Adams, C. Tifft, C. S.
Holmes, D. S. Goldstein, L. Yi, W. A. Gahl, S. G. Kaler.
2322
F The mitochondrial F-box protein FBXL4 is
necessary for efficient mitochondrial espiration.
C. A. Biagosch, X. Gai, D. Ghezzi, M. A. Johnson, H. E.
Shamseldin, T. B. Haack, A. Reyes, M. Tsukikawa, C.
A. Sheldon, S. Srinivasan, M. Gorza, L. S. Kremer, T. M.
Strom, E. Place, S. Vidoni, L. Wong, M. Salih, E. Al-Jishi,
C. P. Raab, F. Furlan, J. A. Mayr, V. Konstantopoulou, M.
Huemer, T. Meitinger, P. Freisinger, W. Sperl, F. S. Alkuraya,
M. J. Falk, M. Zeviani, H. Prokisch.
2323
T Mitochondrial dysfunction in a patient with a
mutation in the
MRPP1
gene encoding a subunit of
the mitochondrial RNAseP complex.
M. D. Metodiev, Z.
Assouline, M. Rio, N. Bahi-Buisson, A. Munnich, A. Rötig.
2324
F Gaucher disease: Clinical, biochemical and
histopathological effects of 11 years of enzyme
therapy in a chronic neuronopathic variant.
Y. Sun, T.
A. Burrow, W. Zhang, B. Quinn, D. P. Witte, L. Bailey, C. E.
Prada, G. A. Grabowski.
2325
T Intracellular itinerary of normal and mutant
ATP7A
in polarized motor neurons.
L. Yi, S. G. Kaler.
2326
F Characterization of an
ACAD10
deficient mouse
model: Pathological and biochemical analyses.
K.
Kormanik, D. El Demellawy, A.-W. Mohsen, A. Karunanidhi,
M. Reyes-Mugica, J. Vockley.
2327
T Mutations in
HADHB
,
which encodes the
b
-
subunit of mitochondrial trifunctional protein, cause
infantile onset hypoparathyroidism and peripheral
polyneuropathy.
K. Yamada, M. Naiki, N. Ochi, Y. Kato,
J. Purevsuren, R. Kimura, D. Fukushi, S. Hara, Y. Yamada,
T. Kumagai, S. Yamaguchi, N. Wakamatsu.
2328
F Thiamine pyrophosphate deficiency secondary
to
TPK-1
mutation presenting as Leigh’s disease:
Diagnosis and management within a sibling pair.
J.
l. Fraser, S. Yang, A. Vanderver, T. Chang, L. Cramp, K.
Chapman, G. Vezina, P. Smpokou, U. Lichter-Konecki,
D. J. Zand.
2329
T Deficiency of the mitochondrial phosphate
carrier presenting with myopathy or cardiomyopathy:
Two new cases.
L. C. Pyle, E. J. Bhoj, M. Li, R. C. Ahrens-
Nicklas, C. Ficicioglu, N. Sondheimer, M. Yudkoff.
2330
F Use of next-generation sequencing in
mitochondrial disorders: Whole mitochondrial genome
analysis.
S. Seneca, K. Vancampenhout, G. Van Dyck,
J. Smets, A. Van Lander, R. Van Coster, D. Daneels, W.
Lissens, L. De Meirleir.
2331
T Variability in the level of erythrocyte glucose
uptake in two patients of Glut1 deficiency synd ome
with the same
SLC2A1
mutation.
N. Ishihara, J.
Natsume, K. Yanagihara, Y. Fukuhara, K. Yamada,
Y. Yamada, Y. Azuma, T. Negoro, N. Wakamatsu, K.
Watanabe.
2332
F Suspected mitochondrial myopathies in the era
of genomic medicine.
A. M. Atherton, S. F. Kingsmore,
B. A. Heese, S. E. Soden, C. J. Saunders, E. G. Farrow,
L. Willig, N. A. Miller, L. D. Smith.