x

75% of people globally want unbiased news (Pew Research) but are concerned they're not getting that.

Get balanced coverage with Symby. See how stories are covered across diverse outlets and spot when one side covers a story the other skips.

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

00:14:25

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

00:11:20

SSIEM2024 Day 1 - Making you feel uncomfortable

JIMD Podcasts ·

2024/09/02

The first of a series of podcasts accompanying the 2024 annual symposium of the SSIEM 2024. In this episode Dr Dulce Quelhas reflects on her plans for the meeting and just how long it has been gestating. Stay tuned for daily content.

en

00:21:19

Flies, plants and classic galactosemia

JIMD Podcasts ·

2024/08/30

Professor Judy Fridovich-Keil returns to the podcast to explain her work to illustrate whether the phenotype of galactosemia is related to GALT activity or galactose metabolism. Her group have been working with plant enzymes in fruit flies. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. melanogaster model of classic galactosemia Jennifer M. I. Daenzer, et al https://doi.org/10.1002/jimd.12774

en

00:03:53

Shortcast: Do early-treated adults with...

JIMD Podcasts ·

2024/08/30

Dr Roman Trepp attempts to answer the question, Do early-treated adults with phenylketonuria sense high phenylalanine levels? Do early-treated adults with phenylketonuria sense high phenylalanine levels? Laura Hauri, Raphaela Muri, Regula Everts, Roman Trepp https://doi.org/10.1002/jmd2.12446

en

00:18:09

Fatty acid homeostasis

JIMD Podcasts ·

2024/08/16

Professors Fréd Vaz and Ronald Wanders present an entertaining and informative overview of fatty acid homeostasis and explain why the catabolic and anabolic processes cannot be considered separately.Disorders of fatty acid homeostasis Frédéric M. Vaz, et al https://doi.org/10.1002/jimd.12734

en

00:06:30

Metabolic mysteries: Progressive neurological...

JIMD Podcasts ·

2024/08/09

Dr Annet Bosch describes three cases where young adults developed worsening neurological symptoms after a change in diet. Initially confused with Guillan-Barré Syndrome, this treatable condition may be hard to diagnose but devastating to miss. Find full details here: https://doi.org/10.1002/jmd2.12427

en

00:18:00

Heterozygous DHDDS variants

JIMD Podcasts ·

2024/08/02

Dr Irena Muffels is joined by Professor Eva Morava to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact on multiple different metabolic pathways. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants I. J. J. Muffels, et al https://doi.org/10.1002/jimd.12769

en

00:30:47

Footprints of IMD: Metabolic Epilepsies... with...

JIMD Podcasts ·

2024/07/29

Professor Phillip Pearl joins Eva Morava to discuss the footprints of metabolic epilepsies and a very brief introduction to the intertwined nature of music and neurology. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2023.107690 Find IMDs associated with epilepsies at: http://iembase.org/gamuts/store/docs/IMDs_presenting_with_epilepsies_010124.pdf

en

00:17:53

Gene replacement therapies for inherited disorders of...

JIMD Podcasts ·

2024/07/19

Dr Henry Lee joins the podcast to discuss the challenges of developing gene therapies for inherited disorders of neurotransmission and shares the progress that his group has made with SSADH deficiency. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency Henry H. C. Lee, et al https://doi.org/10.1002/jimd.12735

en

00:04:18

Shortcast: Galactokinase 1 is the source of elevated...

JIMD Podcasts ·

2024/07/12

Dr Tom Hartl discusses his group's work with a mouse model that knocks out both GALT and GALK and the insights that this provides into classic galactosemia.Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia Linley Mangini, et al https://doi.org/10.1002/jmd2.12438

en

00:29:37

Dietary management for pyridoxine-dependent epilepsy

JIMD Podcasts ·

2024/07/04

Marjorie Dixon and Annemiek van Wegberg join guest host Curtis Coughlin II to complete the treatment puzzle in pyridoxine dependent epilepsy and explain the role and practicalities of lysine restriction in PDE.Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines Marjorie Dixon, et al https://doi.org/10.1002/jmd2.12418

en

00:20:20

Footprints of IMD: Metabolic Liver Disease... with...

JIMD Podcasts ·

2024/07/01

Nenad Blau hosts Professor David Cassiman as he explains when to consider a metabolic differential in pediatric and adult liver disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2019.04.002 Find liver disorders associated with IMDS at: http://iembase.org/gamuts/store/docs/Liver_disorders_in_inherited_metabolic_disorders.pdf

en

00:04:46

Shortcast: Normal transferrin glycosylation does not...

JIMD Podcasts ·

2024/06/28

In the latest shortcast, Inez Bosnyak describes a case of ALG1-CDG presenting without an abnormal isoelectric focusing pattern. Normal transferrin glycosylation does not rule out severe ALG1 deficiency Inez Bosnyak, et al https://doi.org/10.1002/jmd2.12415

en

00:23:16

Speech & neural oscillation in classic galactosemia

JIMD Podcasts ·

2024/06/21

Dr Estela Rubio-Gozalbo and Dr Bernadette Jansma explain why brains oscillate, what that has to do with classical galactosemia and how a non-invasive intervention could help with language difficulties. Altered neural oscillations in classical galactosaemia during sentence production Sara Mazzini, et al https://doi.org/10.1002/jimd.12740 Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients Britt Derks, et

en

00:08:46

Shortcast: Late-onset refractory hemolytic anemia in...

JIMD Podcasts ·

2024/06/14

Alexandre Nguyen and Manuel Schiff share the story of two siblings with severe haemolytic anaemia developing in previously well controlled methionine synthase reductase deficiency.Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation? Alexandre Nguyen, et al https://doi.org/10.1002/jmd2.12422

en

00:21:26

Lessons from adult metabolic medicine

JIMD Podcasts ·

2024/06/07

Dr Fanny Mochel returns to the podcast to answer the question, "What can pediatricians learn from adult inherited metabolic diseases?"What can pediatricians learn from adult inherited metabolic diseases? Fanny Mochel https://doi.org/10.1002/jimd.12729

en

246 results

Similar Podcasts

Classic Radio Science Fiction

solgoodmedia.com

Mission to Mars

Inception Point Ai

The 365 Days of Astronomy

365DaysOfAstronomy.org

Creek Devil

william Jevning

UFO Chronicles Podcast

Nik Hunter