Page 150 - ASHG 2012 Annual Meeting Program Guide

POSTER SESSIONS
139
POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
chronic pain.
C. Goizet, V. Dousset, M. Cadenne,
E. Maurat, S. François, C. Blanchard, P. Poulizac, S.
Tabuteau, C. Hubert, S. Laborde, P. Casenave, X. Ferrer,
G. Solé, I. Coupry, F. Bauduer, T. Levade, D. Lacombe.
717
F Infantile onset severe phenotype of cblG
disorder in a patient and abnormal neurotransmitter
metabolites.
R. Jobling, S. Hewson, S. Mercimek-
Mahmutoglu.
718
T Abnormal central tegmental tract signal in a
patient with mild glycogen storage disease type 1a.
D. L. Renaud, S. T. Janousek, D. K. Freese, W. F. Schwenk.
719
F Mild clinical and atypical somatic cell findings
in a
cblF
patient detected by expanded newborn
screening.
D. Rosenblatt, A. Brebner, I. R. Miousse, J. C.
Kim, M. T. Geraghty, D. Watkins, C. Armour.
720
T Fumarase deficiency.
Expanding the phenotype. K.
Siriwardena, W. Al-Hertani, J. Kronick, D. Chitayat.
721
F Renal growth in isolated methylmalonic acidemia.
P. Kruszka, I. Manoli, J. Sloan, C. P. Venditti.
722
T Plasmalogen deficiency in the Pex7 hypomorphic
mouse, a model of rhizomelic chondrodysplasia
punctata, causes neonatal lethality associated with
late lung maturational defects.
N. Braverman, X. He,
S. Jiralerspong, G. Nimmo, Y. Chen, J. Hacia, A. Moser,
W. Cui.
723
F Phenylketonuria and defective metabolism of
tetrahydrobiopterin.
A. Al-Aqeel.
724
T Two cases of neonatal onset type II citrullinemia
diagnosed by urine organic acids based newborn
screening.
Y. Watanabe, K. Tashiro, K. Aoki, T. Inokuchi,
Y. Seki, T. Yanagi, T. Mizuochi, J. Okada, M. Yoshino, T.
Matsuishi.
725
F Translational research in newborn screening:
Implementation of a consensus data set for the
long-term follow-up of patients to improve scientific
understanding and optimize health outcomes.
S. Berry,
K. Hassell, A. Brower, Joint Committee of NBSTRN Clinical
Centers Workgroup and NCC/RC Long-Term Follow-Up
Workgroup.
726
T Newborn screening for infantile Pompe disease:
Report of a pilot study in National Center for Child
Health and Development.
M. Kosuga, K. Kida, N. Fuji, T.
Okuyama.
727
F The identification of infants with Fabry, Pompe,
and mucopolysaccharidosis-I from newborn blood
spots.
C. R. Scott, S. Elliott, N. Buroker, L. I. Thomas, M.
Glass, F. Turecek, M. H. Gelb.
728
T Bare lymphocyte syndrome type III, a novel
mutation in
RFXAP
and failure to identify with newborn
screening for severe combined immunodeficiency.
L.
Randolph, J. Chase, M. Aguilera, J. Siles, J. Church.
729
F Standard value of urine HVA/VMA ratio in the
704
T A founder mutation causing a severe
methylenetetrahydrofolate reductase deficiency in
Bukharian Jews.
S. Ben-Shachar, T. Zvi, A. Rolfs, A. B.
Klobus, Y. Yaron, A. Bar-Shira, A. Orr-Urtreger.
705
F Somatic cell and molecular studies on an
atypical patient with combined homocystinuria and
methylmalonic aciduria (
cblC
).
A. Brebner, C. Ficicioglu,
D. Watkins, T. Pastinen, D. S. Rosenblatt.
706
T Exome sequencing reveals a homozygous
ABCD4
mutation in an adolescent with hyperpigmentation,
ischemia, hyperhomocysteinemia, and methylmalonic
aciduria.
J. C. Kim, A. Brebner, N. C. Lee, W. L. Hwu, Y.
H. Chien, S. Fahiminiya, J. Majewski, D. Watkins, D. S.
Rosenblatt.
707
F Molecular characterization of the
GALK1
gene
in Filipino patients with non-classical galactosemia.
C. L. T. Silao, K. N. Hernandez, D. M. Canson, S. C.
Estrada.
708
T Exome sequencing reveals a frequent Moroccan
founder mutation in
SLC19A3
as a new cause of
early-childhood fatal Leigh syndrome.
H. Smeets, M.
Gerards, R. Kamps, I. Boesten, E. Jongen, B. de Koning,
K. Schoonderwoerd, A. Sefiani, I. Ratbi, W. Coppieters, L.
Karim, I. de Coo, B. van den Bosch.
709
F SATB2 acts as an activator of the
UPF3B
gene.
P. Leoyklang, K. Suphapeetiporn, C. Srichomthong, S.
Tongkobpetch, H. Dorward, A. R. Cullinane, M. Huizing, W.
A. Gahl, V. Shotelersuk.
710
T Low bone strength is a manifestation of
phenylketonuria in mice and is attenuated by a
glycomacropeptide-based diet.
R. D. Blank, P.
Solverson, S. G. Murali, S. J. Litscher, D. M. Ney.
711
F Natural history study of patients with hereditary
inclusion body myopathy.
J. K. De Dios, J. Shrader, G.
Joe, C. Ciccone, A. Mankodi, J. Dastgir, C. Bonnemann,
M. Bevans, D. Draper, J. McKew, M. Huizing, W. A. Gahl,
N. Carrillo-Carrasco.
712
T Hepatic carnitine palmitoyltransferase
1
A deficiency: Adulthood complications and a
Durango, Mexico founder mutation.
N. M. Gallant, N.
Vatanavicharn, D. Salazar, W. R. Wilcox.
713
F Basis of immune dysregulation in Gaucher
disease.
C. Martin, L. Kozhaya, T. Taber, D. Unutmaz, O.
Goker-Alpan.
714
T Longitudinal change in brain volumes and
cognitive function in MPS IIIA.
I. Nestrasil, K. Delaney,
B. Yund, A. Ahmed, K. Rudser, V. Kovac, P. Haslett, C.
Richard, C. Whitley, E. Shapiro.
715
F Is the profile of medical signs and
symptoms associated with specific genotype in
mucopolysaccharidosis type I?
A. Ahmed, R. Cooksley,
C. Whitley, E. Shapiro.
716
T Prevalence of Fabry disease in patients with