| Monday, 31 August 2009 |
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| 08:00 - 17:00 |
Registration Open |
Elizabeth Foyer West (Second Level) |
| 08:00 - 17:00 |
Cyber Café Open |
Worthington’s Foyer (Second Level) |
| 08:00 - 17:00 |
Speaker Ready Room |
Molly B (Second Level) |
| 08:30 - 10:00 |
General Session: Complex Diseases |
Elizabeth Ballroom A-E (Second Level) |
| 08:30 - 09:00 |
Cystic Fibrosis as a Model for Complex Diseases |
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| 09:00 - 09:30 |
Plasma Homocysteine and Coronary Artery Disease |
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| 09:30 - 10:00 |
Heart Disease: Regulatory Role of Arginine on Asymetric Dimethylarginine |
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| 09:00 - 10:15 |
Dietitians Workshop, Part 1 |
Manchester Ballroom ABC (Second Level) |
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Dietary Management and Inborn Errors of Metabolism |
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| 09:00 - 09:10 |
Introduction |
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| 09:10 - 09:35 |
NBS Opportunities and Challenges for Dietitians |
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PKU & Management Issues |
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| 09:35 - 09:45 |
Introduction |
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| 09:45 - 10:15 |
European Perspective: PKU Management |
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| 10:00 - 10:30 |
Refreshment Break in the Exhibit & Poster Hall |
Douglas Pavilion (Ground Level) |
| 10:00 - 16:00 |
Exhibit & Poster Hall Open |
Douglas Pavilion (Ground Level) |
| 10:30 - 12:00 |
Dietitians Workshop, Part 2 |
Manchester Ballroom ABC (Second Level) |
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PKU & Management Issues (continues) |
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| 10:30 - 11:00 |
US Perspective: PKU & GMP |
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| 11:00 - 11:15 |
Discussion & Questions |
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| 11:15 - 12:00 |
Selected Oral Presentations |
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150. Post Graduate Training in Inherited Metabolic Disorders (IMD) for Dietitians in Europe |
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151. MCT Oil-Based Diet Reverses Hypertrophic Cardiomyopathy in a Patient with VLCADD |
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152. An Outdoor Activity Weekend for Patients with a Metabolic Disorder - A Novel Approach to Dietetic Management of Adult Patients |
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153. 22 Years of Breastfeeding in PKU in South Australia |
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Discussion & Questions |
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| 10:30 - 12:00 |
Nurses Workshop, Part 1 |
Manchester Ballroom GHI (Second Level) |
| 10:30 - 10:40 |
Introduction |
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| 10:40 - 12:00 |
Metabolic Clinical Pearls - The Science and Assessment of Inborn Errors of Metabolism |
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| 10:30 - 12:30 |
Workshop: Mitochondrial Diseases |
Manchester Ballroom DEF (Second Level) |
| 10:30 - 11:00 |
CoQ10 Deficiency Syndromes |
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| 11:00 - 11:30 |
Mendelian Respiratory Chain Defects |
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| 11:30 - 12:00 |
Defects of Intergenomic Communication |
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| 12:00 - 12:30 |
Treatment of Disorders of the Respiratory Chain |
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| 12:30 - 13:30 |
Lunch available in the Exhibit & Poster Hall |
Douglas Pavilion (Ground Level) |
| 12:30 - 13:30 |
Exhibitor Lunch Workshop |
Elizabeth Ballroom GH (Second Level) |
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The Right Treatment to the Right Place: Management Considerations in Mucopolysaccharidosis Type VI |
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| 13:00 - 14:00 |
POSTER PRESENTATIONS: Odd-numbered posters |
Douglas Pavilion (Ground Level) |
| 13:00 - 14:00 |
Nurses Workshop, Part 2 |
Manchester Ballroom GHI (Second Level) |
| 13:00 - 14:00 |
Neurologic Findings in Metabolic Disorders |
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| 14:00 - 15:00 |
POSTER PRESENTATIONS: Even-numbered posters |
Douglas Pavilion (Ground Level) |
| 14:00 - 15:30 |
SSIEM Business Meeting |
Elizabeth Ballroom F (Second Level) |
| 15:00 - 17:00 |
Dietitians Workshop, Part 3 |
Manchester Ballroom ABC (Second Level) |
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Fatty Acid Oxidation (FAOD) & Management Issues |
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| 15:00 - 15:10 |
Introduction |
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| 15:10 - 15:25 |
Building Evidence & Consensus |
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| 15:25 - 15:55 |
German Perspective: FAOD |
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| 15:55 - 16:20 |
US Perspective: FAOD |
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| 16:20 - 16:45 |
UK Perspective: FAOD |
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| 16:45 - 17:00 |
Discussion & Questions |
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| 15:30 - 17:00 |
Workshop: Peroxisomal Disorders: |
Manchester Ballroom DEF (Second Level) |
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From Diagnosis to Treatment and Mouse Models |
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| 15:30 - 16:00 |
Laboratory Diagnosis of Peroxisomal Disorders and the Molecular Basis of Peroxisome Biogenesis Defects |
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| 16:00 - 16:30 |
X-Linked Adrenoleukodystrophy: Phenotypes, Genotypes, Pathogenesis and Gene Therapy |
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| 16:30 - 17:00 |
Mouse Models for Peroxisomal Diseases: New Insights |
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| 15:30 - 17:00 |
Nurses Workshop, Part 3: |
Manchester Ballroom GHI (Second Level) |
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Nursing Research and Clinical Project Symposium |
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Selected Oral Presentations |
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147. Metabolic Nurse Consultant/Genetic Counsellor - A Model of Care for Metabolic Patients and Families |
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148. Exploring Parents’ Ideas for Improving Expanded Newborn Screening Practices |
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149. Impact of a Home Care Worker in PKU and Other Inherited Metabolic Disorders |
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| 18:00 - 19:30 |
MGM Editorial Board Dinner |
Betsy BC (Second Level) |
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| Tuesday, 1 September 2009 |
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|
| 07:30 - 08:45 |
ASIEM Business Meeting |
Edward A (Second Level) |
| 07:30 - 08:45 |
JSIMD Business Meeting |
Edward B (Second Level) |
| 07:30 - 08:45 |
SIMD Business Meeting |
Betsy ABC (Second Level) |
| 07:30 - 08:45 |
SLEIMPN Business Meeting |
Edward D (Second Level) |
| 08:00 - 17:00 |
Speaker Ready Room |
Molly B (Second Level) |
| 08:00 - 17:30 |
Registration Open |
Elizabeth Foyer West (Second Level) |
| 08:00 - 17:30 |
Cyber Café Open |
Worthington’s Foyer (Second Level) |
| 09:00 - 10:00 |
General Session: |
Elizabeth Ballroom A-E (Second Level) |
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Various Inborn Errors of Metabolism, Part 1 |
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| 09:00 - 09:30 |
Genetics of Monogenic Pediatric Dyslipidemias |
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| 09:30 - 10:00 |
CoA Sequestration, Toxicity and Redistribution (CASTOR) Diseases: Treatment Following MS/MS |
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| 09:00 - 11:30 |
Segal Symposium: Galactosemia: |
Elizabeth Ballroom FGH (Second Level) |
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The Segal Legacy, Part 1 |
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| 09:00 - 09:15 |
Introduction |
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| 09:15 - 09:30 |
Molecular Biology of Galactosemia |
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| 09:30 - 09:45 |
Natural History of Galactosemia |
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| 09:45 - 10:00 |
Galactose Metabolism |
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| 10:00 - 10:15 |
Clouds Over Galactosemia |
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| 10:15 - 10:30 |
Has the Landscape of Galactosemia Changed? |
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| 10:30 - 10:45 |
Discussion |
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| 10:45 - 11:00 |
Ovarian Dysfunction and Infertility |
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| 11:00 - 11:15 |
Inhibition of Galactokinase as Treatment for Galactosemia |
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| 11:15 - 11:30 |
Duarte Galactosemia: To Treat or Not to Treat? |
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| 10:00 - 10:30 |
Refreshment Break in the Exhibit & Poster Hall |
Douglas Pavilion (Ground Level) |
| 10:00 - 16:00 |
Exhibit & Poster Hall Open |
Douglas Pavilion (Ground Level) |
| 10:30 - 12:00 |
General Session: |
Elizabeth Ballroom A-E (Second Level) |
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Various Inborn Errors of Metabolism, Part 2 |
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| 10:30 - 11:00 |
The Office of Orphan Products Development and IEM: What’s Been Done? What’s Not Done? |
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| 11:00 - 11:30 |
Molecular Architecture of Mitochondrial Energy Metabolism |
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| 11:30 - 12:00 |
Congenital Disorders of Glycosylation |
Douglas Pavilion (Ground Level) |
| 12:00 - 13:30 |
Lunch available in the Exhibit & Poster Hall |
|
| 13:00 - 14:15 |
Segal Symposium: Galactosemia: |
Elizabeth Ballroom FGH (Second Level) |
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The Segal Legacy, Part 2 |
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| 13:00 - 13:15 |
Lessons from the Galactosemia Knockout Mouse |
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| 13:15 - 13:30 |
Living with Classical Galactosemia |
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| 13:30 - 13:45 |
Developments of Treatments for Metabolic Disorders |
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| 13:45 - 14:00 |
Metabolic Disorders: Looking Back to Look Forward |
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| 14:00 - 14:15 |
Discussion & Closing |
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| 13:30 - 15:30 |
Platform Presentations 4: |
Elizabeth Ballroom DE (Second Level) |
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Various Inborn Errors of Metabolism |
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| 13:30 - 13:45 |
119. Impact of Inborn Errors of Metabolism on Paediatric Mortality: A Population Based Study |
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| 13:45 - 14:00 |
120. Lentivirus Mediated Neonatal Gene Therapy for Severe Infantile Hypophosphatasia |
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| 14:00 - 14:15 |
121. Interim Results of Adults and Infants with Hypophosphatasia Treated with Bone -Targeted Human Recombinant Alkaline Phosphatase ENB-0040 |
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| 14:15 - 14:30 |
122. Hyperlipidemia Affects the Efficacy of the Ace-Inhibitors on Microalbuminuria: An Italian Multicenter Study on Glycogen Storage Disease Type 1 |
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| 14:30 - 14:45 |
126. A Novel Hybrid Approach for Rational Drug Design to Treat Classic Galactosemia |
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| 14:45 - 15:00 |
123. Galactosaemia, a Single Gene Disorder with Epigenetic Consequences |
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| 15:00 - 15:15 |
124. Liver Network Pathway Differences at Gestation Day 19 in a Mouse Model of an Inborn Error of Metabolism, GKD, Suggests a Moonlighting Function for the GK Protein |
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| 15:15 - 15:30 |
125. Molecular Analysis of 54 Patients with Pyridoxine Dependent Epilepsy Due to Antiquitin Deficiency |
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| 13:30 - 15:30 |
Platform Presentations 5: |
Elizabeth Ballroom ABC (Second Level) |
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Amino Acid Disorders |
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| 13:30 - 13:45 |
127. A Mouse Model for Bh4-Responsive PKU: Understanding the Molecular Mode of Action of Pharmacological Chaperones |
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| 13:45 - 14:00 |
128. Genotypes and Bh4-Responsiveness in 600 Turkish PKU Patients |
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| 14:00 - 14:15 |
129. Longitudinal Follow-Up of Tetrahydrobiopterin (BH4) Therapy in Patients with BH4 Deficiency in Japan |
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| 14:15 - 14:30 |
130. Large Neutral Amino Acids and Late Diagnosed Phenylketonuria: The California Late Treatment Project |
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| 14:30 - 14:45 |
131. N-Carbamylglutamate Accelerates Ureagenesis in Patients with Hyperammonemia |
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| 14:45 - 15:00 |
132. Hypercitrullinemia, Hypercholesterolemia and Augmented Oxidative Stress in the Patients with Citrin Deficiency During the Silent Period |
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| 15:00 - 15:15 |
133. Quantification of Therapeutic Success after Liver Cell Transplantation (LCT) for Neonatal Urea Cycle Disorders (UCD) |
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| 15:15 - 15:30 |
134. Combinatorial Gene Therapy and NO Supplementation for Phenotypic Correction of Argininosuccinic Aciduria |
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| 15:30 - 16:00 |
Refreshment Break in the Exhibit & Poster Hall |
Douglas Pavilion (Ground Level) |
| 16:00 - 17:30 |
Platform Presentations 6: |
Elizabeth Ballroom DE (Second Level) |
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Fatty Acid Oxidation Disorders |
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| 16:00 - 16:15 |
135. Searching for Factor X in Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) – A Proteomic Screening of Fibroblasts from C.625G>A Homozygous Patients |
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| 16:15 - 16:30 |
136. Affinity Protein Pulldown of Short-Chain Hydroxyacyl-CoA Dehydrogenase Reveals Convergence of Multiple Mitochondrial Pathways |
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| 16:30 - 16:45 |
137. Genotype-Metabolite Correlations and Outcome in MCAD Deficiency Diagnosed by Newborn Screening in New York State |
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| 16:45 - 17:00 |
138. Diagnosis of Maternal Carnitine Deficiency through Newborn Screening |
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| 17:00 - 17:15 |
139. Quantitation of Tissue Acyl-CoAs in Beta-Oxidation Defects Using Tandem Mass Spectrometry: A Novel Method |
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| 17:15 - 17:30 |
140. Resveratrol and SIRT1 Activators, a New Class of Compounds for Pharmacological Rescue of Mitochondrial ß-Oxidation Defects |
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| 16:00 - 17:30 |
Platform Presentations 7: |
Elizabeth Ballroom ABC (Second Level) |
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Organic Acid Disorders |
|
| 16:00 - 16:15 |
141. A Zebrafish Model of Cobalamin C Deficiency Displays Growth Retardation, Development Defects of the Central Nervous System and Metabolic Abnormalities |
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| 16:15 - 16:30 |
142. Identification of a Putative Lysosomal Cobalamin Exporter Mutated in the cblF Defect of Vitamin B12 Metabolism |
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| 16:30 - 16:45 |
143. Neural Damage in Propionic Acidaemia: A Magnetic Resonance Spectroscopy Window to Disease Pathogenesis |
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| 16:45 - 17:00 |
144. Maternal Riboflavin Deficiency, Mimicking Neonatal-Onset Glutaric Aciduria Type 2, is Caused by Mutation of the Riboflavin Transporter, Gpr172B |
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| 17:00 - 17:15 |
145. Gene Expression in Lymphoblastoid Cell Lines from Patients with Propionic Acidemia |
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| 17:15 - 17:30 |
146. Characterization of the Mitochondrial Proteome in Cultivated Cells from Patients Suffering from Ethylmalonic Encephalopathy |
|
| 19:00 - 22:00 |
“Cruisin’ the 101” Closing Event |
Manchester Ballroom (Second Level) |
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| Wednesday, 2 September 2009 |
|
|
| 08:00 - 12:00 |
Registration Open |
Elizabeth Foyer West (Second Level) |
| 08:00 - 12:00 |
Cyber Café Open |
Worthington’s Foyer (Second Level) |
| 08:00 - 12:00 |
Speaker Ready Room |
Molly B (Second Level) |
| 08:30 - 10:00 |
General Session: |
Elizabeth Ballroom A-E (Second Level) |
|
Population Screening, Prevention and Therapy, Part 1 |
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| 08:30 - 09:00 |
MS/MS Screening: Standardization and Practice |
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| 09:00 - 09:30 |
Population Carrier Screening for Lysosomal Storage Disorders |
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| 09:30 - 10:00 |
Screening and Diagnosis of Pompe Disease |
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| 10:00 - 10:30 |
Refreshment Break |
Elizabeth Foyer West (Second Level) |
| 10:30 - 12:00 |
General Session: |
Elizabeth Ballroom A-E (Second Level) |
|
Population Screening, Prevention and Therapy, Part 2 |
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| 10:30 - 11:00 |
Current State of Treatment for Pompe Disease |
|
| 11:00 - 11:30 |
Future Prospects for Enzyme Replacement Therapy |
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| 11:30 - 12:00 |
Closing Remarks |
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