Page 149 - ASHG 2012 Annual Meeting Program Guide

W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
F Enzyme replacement therapy started at birth
improves outcome in difficult-to-treat organs in
mucopolysaccharidosis I mice.
G. Baldo, F. Mayer, B.
Martinelli, F. Meyer, P. de Oliveira, A. Tavares, L. Meurer, T.
de Carvalho, U. Matte, R. Giugliani.
T Long-term bone mineral density response
to enzyme replacement therapy in a retrospective
pediatric cohort of Gaucher patients.
B. Bembi, G.
Ciana, L. Deroma, A. M. Franzil, A. Dardis.
F Evaluation of long-term enzyme replacement
therapy for children with Fabry disease.
A. M. Hebert, T.
Taber, L. Lacbawan, M. Banikazemi, O. Goker-Alpan.
T Combined therapy in a patient with Gaucher
type III.
J. Navarrete, P. Galindo, R. Delgado, A. Limon.
F Biochemical characterization of myelin
abnormalities in the corpus callosum in MPS I
S.-H. Kan, S. Q. Le, J. K. Yee, M. Guzman, N. M.
Ellinwood, P. I. Dickson.
T Enzyme replacement therapy in a Gaucher type
patient: Report of a paradigmatic case.
F. Vairo, A. D.
Dornelles, S. D. Mittelstadt, M. Wilke, D. Doneda, C. B. O.
Netto, I. V. D. Schwartz.
F Alteration in liver TGF
expression and signaling
in MPS I canines and the effect of enzyme replacement
M. Vera, S. Q. Le, S. H. Kan, P. I. Dickson.
T Korean experience with citrin deficiency.
B. H.
Lee, Y. M. Kim, G. H. Kim, K. M. Kim, H. W. Yoo.
F Molecular diagnosis in mitochondrial respiratory
chain deficiency using exome sequencing.
R. Kopajtich, T. B. Haack, B. Haberberger, K. Danhauser,
J. A. Mayr, W. Sperl, U. Ahting, G. F. Hoffmann, M.
Tesarova, E. Frisch, M. Schülke, I. Wittig, P. Freisinger,
D. Ghezzi, M. Zeviani, A. Rötig, E. Graf, T. M. Strom, T.
Meitinger, H. Prokisch.
T Occurrence of lysosomal storage disorders in
children with hepatomegaly or hepatosplenomegaly:
An institutional experience.
M. Mistri, C. Ankeleshwaria,
A. Bavdekar, M. Kamate, C. Datar, F. Sheth, J. Sheth.
F Exome sequencing reveals that mutations in the
genes encoding aminoacyl tRNA synthetases cause
a variety of clinical syndromes.
M. T. Geraghty, M. J.
M. Nowaczyk, P. Humphreys, J. Schwartzentruber, C. L.
Beaulieu, A. Smith, L. Huang, J. Majewski, D. E. Bulman,
K. M. Boycott, FORGE Consortium.
T Novel mutations in the
gene in patients with
type B pyruvate carboxylase deficiency.
E. Oestergaard,
M. Duno, . LB. Møller, H. S. Kalkanoglu-Sivri, A. Dursun,
D. Aliefendioglu, H. Leth, M. Dahl, E. Christensen, F.
F Bioinformatics and genotypic evaluation of the
IDUA gene and protein in MPS I patients diagnosed in
Colombia, Ecuador and Perú.
H. Velasco, J. Gonzalez,
T. Pineda.
J. Kim, R. Dobrovolny, R. Desnick.
F Maple syrup urine disease due to a new point
mutation at
in Iranian family.
M. Hamid, G. R.
Shariati, A. H. Saberi, M. Mohammadi.
T Peanut consumption increases levels of plasma
very long chain fatty acids in humans.
C. T. Lam, D. A.
Wong, S. D. Cederbaum, B. Lim, Y. Qu.
F Diagnostic testing for multiple treatable
metabolic neurodegenerative disorders by next-
generation sequencing.
S. van Koningsbruggen, O. R.
Mook, G. Visser, M. A. Haagmans, R. C. Hennekam, G. S.
Salomons, P. Verwaijen, H. R. Waterham, F. A. Wijburg, M.
M. Mannens.
T Prevalence of
p.M712T and hereditary
inclusion body myopathy in Sangesar population of
Northern Iran.
H. Khademian, R. Carbajo, E. Mehravar, L.
Sandoval, J. Garcia-Figueroa, Z. Khokher, D. No, Y. Valles-
Ayoub, D. Darvish.
F Clinical application of massively parallel sequencing
for molecular diagnosis of genetically heterogeneous
glycogen storage diseases.
J. Wang, H. Cui, N.-C. Lee, W.-
L. Hwu, Y. H. Chien, W. J. Craigen, L.-C. Wong, V.-W. Zhang.
T Findings from the ZOOM genetic screening
study of Niemann-Pick disease type C in adults with
neurological and psychiatric signs.
P. Bauer, D. J.
Balding, H. H. Klünemann, D. Linden, D. Ory, M. Pineda, J.
Priller, F. Sedel, A. Muller, H. Chadha-Boreham, R. Welford,
D. S. Strasser, J. E. Wraith, M. C. Patterson.
F Detection of mucopolysacchariduria in dried-
urine filter paper samples: A useful technique for
regions where transportation of liquid samples is
R. Giugliani, F. Bender, G. Marasca, R.
Guidobono, J. De Mari, M. Burin, G. Civallero.
T Analysis of non-reducing ends of
glycosaminoglycans for the diagnosis and monitoring
of therapy in mucopolysaccharidoses type I and type II.
T. Yuzyuk, E. Schwarz, J. Brown, B. Crawford, M. Pasquali.
F Rare, bizarre, and complex illnesses with unusual
medical events in patients should be a signal to trigger
a mitochondrial work-up: Clinical decision tree for
mitochondrial disorder workup is provided.
A. Perszyk.
T Clinical re-sequencing of 450 genes to diagnose
mitochondrial disorders: Results from the first 119
J. DaRe, V. Vasta, T. Tran, J. Penn, L. Susswein,
J. Booker, S. Hahn.
F Insulin resistance: Development of a clinical
assay for
mutation detection.
M. Procter, O. Ardon,
A. Carey, H. Amiri, N. Longo, R. Mao.
T Comparative transcriptome profiles in
Gaucher disease mice treated with imiglucerase or
velaglucerase alfa.
N. Dasgupta, Y.-H. Xu, S. Oh, Y. Sun,
L. Jia, S. Barnes, M. Keddache, G. A. Grabowski.