07:00 -12:00 |
Executive Board Room |
REGISTRATION |
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07:00 - 08:30 |
Grand Promenade |
BREAKFAST |
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08:30 -12:00 |
Mediterranean Room East |
Metabolic diseases that affect the brain |
Chair:
Richard I. Kelley, MD, PhD |
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Holoprosencephaly and the role of cholesterol in brain
development |
Maximilian Muenke, MD
(NIH) |
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Pathophysiology and treatment of
non-ketotic hyperglycinemia |
Ada Hamosh, MD, MPH
(Johns Hopkins) |
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Organic acidurias, excitotoxicity, and windows of
vulnerability |
Richard I. Kelley, MD, PhD
(Johns Hopkins) |
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BREAK (20 min) |
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Maple syrup disease: a model disorder of cerebral
amino acid transport |
D. Holmes Morton, MD
(Clinic for Special Children) |
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Cerebral glucose transporter deficiency |
Darryl Devivo, MD
(Columbia University) |
12:00 -13:00 |
Grand Promenade |
LUNCH |
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13:00 - 17:00 |
Mediterranean Room East |
Inborn errors of metabolism in adults – new
developments |
Chair:
Cheryl R. Greenberg, MD, CM |
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Maternal Illness in Pregnancy and Metabolic Disease |
Cheryl R. Greenberg, MD, CM
(University of Manitoba) |
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Clinical Biochemical and Molecular Aspects of
Hemochromatosis |
Victor Herbert, MD, JD
(Mount Sinai School of Medicine) |
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Transitioning to adult care - what we can do to help
our youth with IEM who are growing up - the ON-TRAC program |
Mary Paone, RN, MSN (Children's
& Women's Health Centre of British Columbia) |
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BREAK (30 Minutes) |
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Advances in Porphyria |
Robert J. Desnick, PhD, MD
(Mount Sinai School of Medicine) |
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Glycogen Storage Disorders - Natural History to
Adulthood |
Y.T. Chen, MD, PhD
(Duke University) |
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Mitochondrial Disorders in Adulthood |
Douglas C. Wallace, PhD
(Emory University) |
17:30 - 18:30 |
Starlight Room |
DINNER |
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19:00 - 21:00 |
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Short Presentations including travel award winners |
Chair: Louis Elsas, MD
(Emory University) |