INVITED AND SPECIAL SESSIONS
Thursday, October 27
8:00 AM-10:30 AM
Concurrent Platform Sessions I (19-25) Click on abstract number to view full text
SESSION 24 - Metabolic Disorders: Inborn Errors of Metabolism and Biochemical Genetics
Ballroom E-H
Co-Moderators: Dwight Koeberl, Duke University Medical Center, Durham, NC; and Tina Cowan, Standford University Medical Center, Stanford, CA
57/8:00 Deficiencies in different subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorder of Glycosylation. G. Matthijs, F. Foulquier, E. Vasile, D. Ungar, M. Krieger and W. Annaert.
58†/8:15 Identification of the first human mutations in a component of the selenocysteine incorporation machinery. A. M. Dumitrescu, X. H. Liao, M. S. Y. Abdullah, J. Lado-Abeal, F. Abdul Majed, L. C. Moeller, G. Boran, R. E. Weiss and S. Refetoff.
59/8:30 A new defect in b-oxidation presenting as sudden liver failure. M. He, S. L. Rutledge, D. Kelly, E. Goetzman and J. Vockley.
60/8:45 MMAHCC is mutated in patients with methylmalonic aciduria and homocystinuria cblC type. J. P. Lerner-Ellis, J. C. Tirone, P. D. Pawelek, C. Doré, J. Atkinson, T. M. Fujiwara, D. Watkins, C. F. Morel, E. Moras, A. R. Hosack, C. M. Dobson, R. A. Gravel, P. Lepage, J. W. Coulton, J. M. Rommens, K. Morgan and D. S. Rosenblatt.
61/9:00 Biochemical characterization of a murine model of mut class methylmalonic acidemia suggests an important role for skeletal muscle in the production of metabolites. R. J. Chandler, A. Chen and C. P. Venditti.
62/9:15 Molecular Analysis of AASS in Familial Hyperlysinemia (FH). N. Braverman, A. Lossos, U. Vester, E. Christensen, R. P. Cox, M. T. Geraghty and N. M. Kim.
63/9:30 Secondary creatine deficiency in ornithine delta-aminotransferase deficiency. K. Mention, N. Boddaert, S. Romano, L. Hubert, J. Kaplan, J. L. Dufier, V. Valayannopoulos, F. Brunelle, J. M. Saudubray, A. Munnich and P. de Lonlay.
64/9:45 Expanded Newborn Screening identifies maternal primary carnitine deficiency. S. A. Berry, K. Bentler, M. McCann, N. Longo, M. Pasquali, P. Rinaldo, D. Matern and L. A. Schimmenti.
65/10:00 Fabry disease: Early clinical manifestations and age at clinical events in a cohort of 1214 males and females. C. M. Eng, W. R. Wilcox, S. Waldek, G. Linhorst, D. Germain, J. Charrow, C. R. Scott, F. Breunig and M. Banikazemi.
66/10:15 Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. T. Fukuda, K. Zaal, E. Ralston, P. Plotz and N. Raben.
