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PODCAST

JIMD Podcasts

Journal of Inherited Metabolic Disease

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We"re also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

science

All Episodes

00:15:58

CBS Deficiency in the E-HOD Registry

JIMD Podcasts ·

2025/01/28

Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological TreatmentAndrew A. M. Morris, Jitka Sokolová, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Carlo Dionisi-Vici, Matthias R. Baumgartner, Luciana Hannibal, Henk J. Blom, Martina Huemer, Viktor Kožich, E-HOD Consortium https://doi.org/10.1002/jimd.12844

en

00:25:34

Velmanase alfa for alpha-mannosidosis

JIMD Podcasts ·

2025/01/28

Nathalie Guffon joins the podcast to discuss alpha-mannosidosis and the long term efficacy of enzyme replacement therapy with velmanse alfa.Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis Nathalie Guffon, et al https://doi.org/10.1002/jimd.12799

en

00:49:08

An update on autophagy disorders

JIMD Podcasts ·

2025/01/02

It seems everyone is talking about autophagy but what is it and what happens when it goes wrong? Hormos Salimi Dafsari, Carlo Dionisi-Vici, and Heinz Jungbluth join the podcast to answer these questions, discuss their experience across 3 (or 2.5) generations of clinical practice and why you never see an obese 100-year-old.An update on autophagy disorders Hormos Salimi Dafsari, et al https://doi.org/10.1002/jimd.12798

en

00:41:32

Models in Leigh Syndrome

JIMD Podcasts ·

2024/12/27

Marie-Thérèse Henke, Alessandro Prigione, and Markus Schuelke get 2025 off to an informative start discussing why so many models exist for Leigh Syndrome, why we need them and how insights from disease models have led to Sildenafil being used in some patients. Disease models of Leigh syndrome: From yeast to organoids Marie-Thérèse Henke, Alessandro Prigione, Markus Schuelke https://doi.org/10.1002/jimd.12804

en

00:25:38

KAMPER: Kuvan (BH4) in phenylketonuria

JIMD Podcasts ·

2024/12/20

Dr François Feillet returns to the podcast to discuss the final results of the KAMPER study, evaluating the long-term safety of sapropterin in phenylketonuria (phenylalanine hydroxylase deficiency).Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study François Feillet, et al https://doi.org/10.1002/jimd.12796

en

00:19:08

Dietary management in GSD type 3a

JIMD Podcasts ·

2024/12/05

Dr Sema Kalkan Uçar joins the podcast to discuss the merits of a high protein, high fat diet for the management of patients with Glycogen Storage Disease type 3a.Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance Sema Kalkan Uçar, et al https://doi.org/10.1002/jimd.12741

en

00:13:34

Footprints of IMD: Psychiatric presentations... with...

JIMD Podcasts ·

2024/12/02

Dr Gabriella Horvath returns for her second visit to the podcast, joining Eva Morava to discuss psychiatric presentations of Inherited Metabolic Disease.Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.02.007 Find IMDs associated with psychiatric presentations at: http://iembase.org/gamuts/store/docs/Psychiatric_IMD_gamuts.pdf

en

00:08:09

Shortcast: Two successful pregnancies in patients...

JIMD Podcasts ·

2024/11/29

In this Shortcast Antonio Ochoa-Ferraro and Dr Charlotte Dawson share their experience using the medication Volanesorsen with two pregnant women diagnosed with familial chylomicronemia syndrome.Two successful pregnancies in patients taking Volanesorsen for familial chylomicronemia syndrome Subadra Wanninayake, et al https://doi.org/10.1002/jmd2.12435

en

00:15:03

RNA based therapies in Urea Cycle Disorders

JIMD Podcasts ·

2024/11/21

In the latest podcast, Dr Lourdes Desviat provides an overview of the different RNA based therapeutic approaches including how they work and which are showing promise for the management of Urea Cycle Disorders. Exploring RNA therapeutics for urea cycle disorders Eva Richard, Ainhoa Martínez-Pizarro, Lourdes R. Desviat https://doi.org/10.1002/jimd.12807

en

00:21:50

Brain changes in infantile Pompe disease

JIMD Podcasts ·

2024/11/05

Dr Hannerieke van den Hout of Erasmus MC joins the podcast to discuss observations from two decades of early treated infantile onset Pompe disease and the evolving nature of the neurological phenotype.Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning van den Dorpel, et al https://doi.org/10.1002/jimd.12736

en

00:06:40

Shortcast: Metabolic management of a successful...

JIMD Podcasts ·

2024/11/01

Callie Ferguson discusses her group's care for a young woman with FBPase deficiency during pregnancy and beyond. Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency Callie Ferguson, Anita Madison, Ada Hamosh, Celide Koerner https://doi.org/10.1002/jmd2.12453

en

00:26:07

Gene therapy for mitochondrial disorders

JIMD Podcasts ·

2024/10/25

Professor Shamima Rahman and Dr Nandaki Keshavan take us on a whistle stop tour of the different approaches taken to gene therapy in mitochondrial disease and why some may work better than others. Gene therapy for mitochondrial disorders Nandaki Keshavan, Michal Minczuk, Carlo Viscomi, Shamima Rahman https://doi.org/10.1002/jimd.12699

en

00:35:05

Adult outcomes in classic galactosemia

JIMD Podcasts ·

2024/10/11

Olivia Garrett, Jared Druss, Estela Rubio-Gozalbo, Gerard Berry, and Judith Fridovich-Keil discuss outcomes in classic galactosemia drawn from patient surveys of 97 adults.Health and well-being of maturing adults with classic galactosemia Olivia S. Garrett, Jared J. Druss, E. Naomi Vos, Yu-Ting Debbie Fu, Stephanie Lucia, Patricia E. Greenstein, Anna Bauer, Jolanta Sykut-Cegielska, Karolina M. Stepien, Cameron Arbuckle, Olga Grafakou, Uta Meyer, Nele Vanhoutvin, Adriana Pané, Annet M. Bosch,

en

00:29:37

Footprints of IMD: Metabolic cardiovascular...

JIMD Podcasts ·

2024/10/04

Professor Carlos Ferreira joins Eva Morava to discuss the metabolic cardiovascular disease and explain why cardiac involvement is common in IMDs and when an underlying metabolic should be suspected in a cardiac presentation.Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.12.290 Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/GAMUTS_Supplemental_table%202_footprints_4_181220.pdf

en

00:25:15

Neuronopathic gaucher disease

JIMD Podcasts ·

2024/09/27

Originally presented at the SSIEM 2023 Annual Symposium, Dr Ozlem Goker-Alpan discusses neuronopathic gaucher disease, regional variations and hopes for new treatments.Neuronopathic Gaucher disease: Rare in the West, common in the East Ozlem Goker-Alpan, Margarita M. Ivanova https://doi.org/10.1002/jimd.12749

en

00:14:25

Chorioretinopathy In LCHADD

JIMD Podcasts ·

2024/09/13

Dr Melanie Gillingham, PhD, RD, joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis. Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy Melanie B. Gillingham, et al https://doi.org/10.1002/jimd.12738

en

00:17:59

Footprints of IMD: Metabolic myopathies... with...

JIMD Podcasts ·

2024/09/09

Professor Corrado Angelini joins Eva Morava to discuss the footprints of metabolic myopathies, why they are so common and when they should be suspected. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2022.09.004 Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/Footprints_myopathies_table%20151022.pdf

en

00:10:12

SSIEM 2024 Day 4 - One eye on Porto, one on Kyoto

JIMD Podcasts ·

2024/09/06

Concluding our limited series related to the SSIEM 2024 meeting in Porto. We reflect on Day 3 and modelling disease through organoids, nursing in IMD investigation of hypoglycaemia. We also hear more about dolichol metabolism and George Komrower.

en

00:09:09

SSIEM2024 Day 3 - Definitely not brains in jars

JIMD Podcasts ·

2024/09/05

Thoughts on the second day of SSIEM 2024 annual symposium and a little preview of day 3.

en

00:07:07

SSIEM2024 Day 2 - Should we screen new adults?

JIMD Podcasts ·

2024/09/04

A look back on the first day of the SSIEM 2024 Annual Symposium and a preview of Day 2 with Rodrigo Starosta co-hosting.

en

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