ISIMD Autumn Meeting 2019 – Next Generation Technologies in the Management of Neurometabolic Disorders with Dr. Clara van Karnebeek. Dr. van Karnebeek is an Associate Professor in Paediatrics and Biochemical Genetics, Amsterdam, UMC. The meeting will be held on Thursday, 7th November in St. George’s Hall, Children’s University Hospital, Temple Street, Dublin 1. Refreshments from […]
We recently received some lovely, positive commentary about our www.metabolic.ie website. Ms. Mairead Moloney, a dietitian working in Great Ormond Street Hospital for Children (GOSH) in London, took the time to write in as follows: ‘To whom it may concern. Just a quick email to say that I think your online resources are absolutely fantastic! […]
Since its beginning in the 1960s, the National Newborn Bloodspot Screening Programme (NNBSP) has been proven to be a great success in Ireland. The inherited metabolic disorders (IMDs), which are screened for are Phenylketonuria, homocystinuria, maple syrup urine disease, galactosaemia, glutaric aciduria and MCADD. Currently, NNBSP in Ireland only identifies these six IMDs, congenital hypothyroidism […]
The Society for the Study of Inborn Errors of Metabolism (SSIEM) is holding its annual symposium in Rotterdam, The Netherlands from September 3rd to September 6th, 2019. The theme of the congress is ‘Building Bridges’. Further information is available at https://ssiem2019.org/
We are pleased to announce that the Spring Conference of the Irish Society for Inherited Metabolic Disorders (ISIMD) will be held on Friday, April 12th, 2019 in the Pillar Room of the Rotunda Hospital, Dublin. The theme of the conference is ‘Multi-System Presentation of Inherited Metabolic Disorders’. The conference programme and registration details may be […]
The Autumn meeting of the ISIMD was held in St. George’s Hall, in Temple Street Children’s University Hospital on October 4th 2018. The topic for the meeting was “Update on Newborn Bloodspot Screening”. The invited speaker was Ralph Fingerhut, Director Swiss Newborn Screening, Zurich. The presentation was interesting and informative, and was followed by a […]
The ISIMD Conference 2018 is on Friday, 20 April, in the Pillar Room, Rotunda Hospital. This year’s conference is Ketones and Metabolic Disorders. Please see www.isimd.ie for more details. Registration online. €25 full day. All disciplines welcome.
Instructions for Reading our Publications on www.metabolic.ie as E-Books for android and apple devices. Android: First you need to check your settings in Google Play Books to ensure that you have enabled PDF uploading Click on the booklet you wish to download on www.metabolic.ie and begin download. Once download is complete either open immediately by […]
Eilish O’Connell, our Clinical Education facilitator, won an All-Ireland medal in golf last year. She is pictured here with her golf partner, Martin Darcy. She played for her home club of Tullamore Golf Club in the All-Ireland Mixed foursomes 2017. Over 300 teams entered throughout Ireland and in September 2017 were crowned All-Ireland Champions. We […]
A member of the metabolic attended the WORLDSymposium 2018. The symposium provides an interdisciplinary forum to explore areas of interest, research and clinical applicability to lysosomal diseases. Feedback was provided to the metabolic team.