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ASIEM SIG Meeting

Tracks
Track 4
Saturday, August 3, 2019
8:30 AM - 5:00 PM
Lion Harbour View 2 (L2)

Details

0830 Welcome | 0840-1030 Session 1: Complex Clinical Cases & Concepts - Chairs: Dr Emma Glamuzina & Ms Anita Inwood | 1030 Morning Tea | 1100 Invited Dietitian Speaker - Ms Rachel Skeath - Chairs: Dr Bryony Ryder & Dr Maureen Evans | 1130 Invited Speaker - Prof Frank Bloomfield | 1215 Lunch | 1315-1430 Session 2: New Disease and Diagnostics - Dr Kaustuv Bhattacharya & Mr Mark De Hora | 1315 International Speaker - Prof Peter Clayton | 1400 Invited Speaker - Dr Brett McWhinney | 1430 ASIEM AGM | 1530 Afternoon Tea | 1600-1700 Session 3: Emerging Therapies - Dr Drago Bratkovic and Dr Emma Glamuzina | 1600 Invited Speaker - Ms Heidi Peters | 1630 Invited Speaker - Prof Ian Alexander | 1700 Meeting closes


Speaker

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Mrs Marjorie Dixon
Clinical Lead Dietitian – metabolic medicine
Great Ormond Street Hospital for Children, NHS Foundation Trust

Experience of dietetic management in pyridoxine dependent epilepsy

8:40 AM - 9:10 AM
Dr Bryony Ryder
Metabolic Paediatrician
Starship and Auckland City Hospitals

Carnitine acylcarnitine translocase deficiency: 16 cases with survival in 10.

9:10 AM - 9:30 AM
Mrs Susan Thompson
Clinical Specialist Dietitian
Genetic Metabolic Disorders Service, The Childrens Hospital at Westmead

Diet management of lipoprotein lipase deficiency

9:30 AM - 9:50 AM
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Dr Noha Elserafy
Clinical Geneticist
Nepean Hospital

Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia

9:50 AM - 10:10 AM
Mrs Rhonda Akroyd
Metabolic Dietitian
Auckland City Hospital

Management of cobalamin non-responsive methylmalonic acidaemia with heterozygous kidney transplant followed by orthotopic liver transplantation

10:10 AM - 10:30 AM
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Ms Rachel Skeath
Clinical Lead Dietitian- Metabolic Medicine
Great Ormond Street Hospital

DIETARY MANAGEMENT OF METHYLMALONIC ACIDEMIA (MMA) MUT0 THROUGH RENAL OR LIVER TRANSPLANT: THREE CASE STUDIES

11:00 AM - 11:30 AM
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Prof Frank Bloomfield
Director
Liggins Institute, The University of Auckland

NUTRITIONAL MANAGEMENT OF THE EXTREMELY PRETERM BABY

11:30 AM - 12:15 PM
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Prof Peter Clayton
Professor of Paediatric Metabolic Disease and Hepatology
Institute of Child Health UCL

DISORDERS OF VITAMIN B6 METABOLISM: WHAT’S NEW?

1:15 PM - 2:00 PM
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Dr Brett McWhinney
Supervising Scientist
Pathology Queensland

EXPANDING THE UTILISATION OF MASS SPECTROMETRY IN DIAGNOSING INBORN ERRORS OF LYSOSOMAL METABOLISM

2:00 PM - 2:30 PM
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Dr Heidi Peters
Metabolic Clinician
Royal Childrens Hospital

THE POTENTIAL OF MRNA THERAPY FOR INBORN ERRORS OF METABOLISM INCLUDING MMA

4:00 PM - 4:30 PM
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Prof Ian Alexander
Sydney Children's Hospital Network

GENETIC ENGINEERING APPROACHES TO THE TREATMENT OF UREA CYCLE DISORDERS

4:30 PM - 5:00 PM
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