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1315W Metabolic cutis laxa syndromes.
E. Morava, T.
Gardeitchik, M. Mohamed, D. Kouwenberg, D. Lefeber, U.
Kornak, B. Heuvel, R. A. Wevers.
1316W The expression pattern of genes involved in the
vitamin B
12
metabolic pathway during mouse
embryogenesis.
M. M. Moreno-Garcia, D. S. Rosenblatt,
L. A. Jerome-Majewska.
1317W Genetic analysis of galactosemia genes from
Indian Galactosemia patients: Structural and functional
implications of mutations.
R. Singh, G. Kaur, B. R.
Thapa, R. Prasad.
1318W Effects of genetic variants and nutritional
factors on metabolic diseases among Chinese
populations.
X. Lin.
1319W Neonatal multiple sulfatase deficiency with
tetralogy of Fallot: Homozygosity for a novel mutation.
F. Al Jasmi, J. Hertecant, L. Al Gazali.
1320W A 680 kb duplication at the
FTO
locus in a
subject with extreme obesity.
R. W. Davies, P. Lau, R.
Dent, R. McPherson.
1321W Association between BMI variants previously
identified in adult populations in association with
adolescent BMI in an ethnically-diverse cohort.
M.
Graff, K. E. North, K. L. Mohlke, L. A. Lange, E. M. Lange,
C. S. Fox, L. A. Cupples, K. M. Harris, P. Gordon-Larsen.
1322W Identification of novel mutations in HEXA gene
in children affected with Tay-Sachs disease from India.
M. Mistri, P. Tamhankar, S. Thomas, P. Kondurkar, S.
Mehta, D. Sanghavi, J. Sheth.
1323W Variants in or near PNPLA3, GCKR and
PPP1R3B associate with ultrasound-defined steatosis
in NHANES III.
R. Hernaez, J. McLean, M. Lazo, F. L.
Brancati, J. N. Hirschhorn, T. Nguyen, I. R. Kamel, S.
Bonekamp, J. M. Clark, W. H. L. Kao, E. K. Speliotes.
1324W A genome-wide association study reveals a
quantitative trait locus of resistin on RETN that
predicts metabolic outcomes.
C. Chung, T. Lin, J. Chen,
H. Leu, H. Ho, C. Ting, S. Sheu, W. Tsai, J. Chen, W. Pan.
1325W Genetic risk assessment of type 2 diabetes-
associated polymorphisms in African-Americans.
J.
Cooke, M. Ng, L. Lu, J. Li, S. An, J. Hester, J. Xu, B.
Freedman, C. Langefeld, D. Bowden, N. Palmer.
1326W MTHFR C677T and MTHFR A1298C
polymorphisms in Mexican patients with gestational
diabetes mellitus.
I. P. Davalos, K. I. Lares-Castellanos, J.
P. Mena-Ramírez, M. Salazar-Páramo, E. L. Chávez-
González, I. M. Salazar-Dávalos, M. G. González-
Mercado, M. A. Aceves-Aceves, F. Grover-Páez.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1327W Genetic variation in UBE2E2 is associated wi
risk of type II diabetes in a European population.
A.
Dehghan, E. J. G. Sijbrands, A. Hofman, A. G.
Uitterlinden, J. C. M. Witteman.
1328W Three obesity-related loci are associated wit
insulin resistance independently of body mass index
Fall, J. Ärnlöv, C. Berne, E. Ingelsson.
1329W Fine-scale genetic mapping reveals multiple
signals of association in type 2 diabetes susceptibili
loci.
T. Ferreira, J. Yang, M. E. Goddard, A. Mahajan, T.
M. Teslovich, N. W. Rayner, B. F. Voight, H. Khan, P. M.
Visscher, M. I. McCarthy, A. P. Morris on behalf of
DIAGRAM Consortium.
1330W Mutational spectrum in a sample of Mexican
patients with Hunter syndrome (MPSII): A preliminar
report.
M. Alcantara, A. González -del Ángel, L.
Fernández-Hernández, B. García de Teresa B.
1331W Screening for MPS VI in newborns on a high-
incidence area of Northeast Brazil.
F. Bender, T.
Amorim, A. X. Acosta, F. Costa-Motta, A. Purificacao,
G. Burin, R. Giugliani, S. Leistner-Segal.
1332W Screening for MPS IV A in dried blood spots
with a practical and reliable fluorimetric method.
M.
Camelier, G. E. S. Civallero, J. F. Mari, G. Marasca, T. A
Vieira, M. G. Burin, R. Giugliani.
1333W Variation in heat-shock 70kDa protein 5
(
HSPA5
) is associated with longitudinal change in b
fat.
M. H. Black, R. M. Watanabe, M. Takayanagi, E. Tri
J. Hartiala, H. Allayee, J. M. Lawrence, T. A. Buchanan,
H. Xiang.
1334W Novel associations for hypothyroidism includ
known autoimmune risk loci.
B. T. Naughton, J. Y. Tu
A. K. Kiefer, D. A. Hinds, U. Francke, J. L. Mountain, C.
Do, N. Eriksson.
1335W Cognitive testing in patients with Fabry
disease: a pilot study using a computerized, self-
administered tool.
D. Elstein, G. P. Doniger, E. Simon,
Altarescu.
1336W Evaluation of plasma globotriaosylsphingosin
in patients with Anderson - Fabry disease in Brazil o
enzyme replacement therapy with agalsidase alfa.
Marques, Jr., O. M. Vieira Neto, M. Moysés Neto, I. M.
Furquim, A. C. Paula, J. C. Coelho, C. M. Lourenco.
1337W Enzymatic characterization of
ALDH7A1
(antiquitin) missense mutations associated with
pyridoxine-dependent epilepsy.
M. B. Coulter-Mackie,
Lian, A. Li, E. Struys, S. Stockler, P. J. Waters.
1338W Two cases of congenital disorders of
glycosylation type II without detectable defect in
conserved oligomeric Golgi subunits.
D. Handa, R.
Gilbert, B. Ng, M. Kozenko, M. Ssybowska, H. Freeze,
Li.