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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

00:09:51

Shortcast: Autonomic instability, arrhythmia & visual...

JIMD Podcasts ·

2023/03/29

Dr Caoimhe Howard presents her teams' report of a young boy with MTFMT-related mitochondrial disease. Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease Caoimhe Howard, et al https://doi.org/10.1002/jmd2.12355

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00:21:16

B vitamins, drosophila and TANGO2-deficiency disorder

JIMD Podcasts ·

2023/03/17

This podcast, and the first paper, are dedicated to the memory of Dr. Nassim Shahrzad, an accomplished scientist with a bright future who was taken from her family, friends and colleagues much too soon. May the memory of her warm smile, collegial nature and devotion to her family serve as a source of comfort and inspiration to all those who knew her. In this podcast we return to TANGO2-deficiency disorder to hear from Dr Michael Sacher, Dr Christina Miyake and Dr Samuel Mackenzie, on how research

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00:04:49

Shortcast: Paracetamol toxicity in classic HCU:...

JIMD Podcasts ·

2023/03/16

Dr Nour Elkhateeb describes his group's experience managing a patient with homocystinuria who developed paracetamol toxicity and was subsequently treated with N-acetylcysteine. Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine Nour Elkhateeb, et al https://doi.org/10.1002/jmd2.12363

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00:26:01

The complex machinery of cobalamin

JIMD Podcasts ·

2023/03/03

Dr Sean Froese returns to the podcast alongside Professor Wyatt Yue to discuss cobalamin, crystallography and consuming raw liver. The complex machinery of human cobalamin metabolism Thomas J. McCorvie, et al https://doi.org/10.1002/jimd.12593

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00:04:40

Shortcast: MOGS-CDG: Quantitative analysis of a...

JIMD Podcasts ·

2023/02/28

Merel Post discusses her group's work to describe 6 individuals with MOGS-CDG and the utility of a tetrasaccharide biomarker for confirming diagnosis and possibly for treatment monitoring in future. MOGS-CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases Merel A. Post, et al https://doi.org/10.1002/jimd.12588

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00:30:33

How guidelines drive research and research influences...

JIMD Podcasts ·

2023/02/17

Dr Patrick Forny and Dr Nikolas Boy join the podcast to discuss their recent paper that considers how guideline development feeds into research targets and how new research is integrated into guidelines. How guideline development has informed clinical research for organic acidurias (et vice versa) Patrick Forny, et al https://doi.org/10.1002/jimd.12586

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00:04:01

Shortcast: Successful heart transplantation in an...

JIMD Podcasts ·

2023/02/10

Dr Ruqaiah Altassan describes the successful heart transplantation in a child with PGM1-CDG. Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG) Ruqaiah Altassan, et al https://doi.org/10.1002/jmd2.12350 You may also be interested in: AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase I deficiency (PGM1-CDG). Balakrishnan et

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00:09:23

Shortcast: First decade anniversary of the United...

JIMD Podcasts ·

2023/02/07

Dr Milad Khedr, Dr Nick Sireau and Professor Ranganath discuss a decade of success for the UK National Alkaptonuria Centre and how close integration with the AKU Society works to provide better care for all patients. First decade anniversary of the United Kingdom National Alkaptonuria Centre Milad Khedr, et al https://doi.org/10.1002/jmd2.12340

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00:21:54

Cellular Insights and Computational Modelling In MMA

JIMD Podcasts ·

2023/02/03

Dr Sean Froese and Dr Charlotte Ramon join the podcast to discuss the different hypotheses around cellular damage in MMA, and new insights obtained through cellular and computational models. Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria Charlotte Ramon, et al https://doi.org/10.1002/jimd.12575

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00:12:34

Novel therapy in a propionic acidemia mouse model

JIMD Podcasts ·

2023/01/20

Dr Suzanne Jackowski shares the fruits of a career looking at Co-enzyme A and the results of recent work looking at a promising molecule in a propionic acidemia mouse model. Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia Chitra Subramanian, et al https://doi.org/10.1002/jimd.12570

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00:03:48

Shortcast: Compound heterozygous variants in 2...

JIMD Podcasts ·

2023/01/17

Dr Richard Steet discusses his group's recent work describing compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 leading to GM3 synthase deficiency. Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency Natasha Rudy, et al https://doi.org/10.1002/jmd2.12353

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00:04:14

Shortcast: 3-Methylglutaconyl-CoA hydratase...

JIMD Podcasts ·

2023/01/12

Ashley Hertzog returns to the shortcast to discuss how ascertainment bias may hinder the assessment of clinical phenotype in patients with 3-Methylglutaconyl-CoA hydratase deficiency. 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis Ashley Hertzog, et al https://doi.org/10.1002/jmd2.12332

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00:49:18

Priority Setting Partnership in Mitochondrial Disease

JIMD Podcasts ·

2023/01/06

In a bumper episode, Professor Shamima Rahman helps to host Dr Rhys Thomas, Lyndsey Butterworth, Dr Amy Hunter and Russell Wheeler in a discussion around the recent Priority Setting Partnership in Primary Mitochondrial Disease. Research priorities for mitochondrial disorders: Current landscape and patient and professional views Rhys H. Thomas, et al https://doi.org/10.1002/jimd.12521

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00:04:25

Shortcast: HPMRS3 (Mabry Syndrome): CSF abnormalities...

JIMD Podcasts ·

2022/12/28

Dr Spyros Batzios describes a patient diagnosed with hyperphosphatasia with mental retardation syndrome 3 (also known as Mabry Syndrome) and reports on novel findings of CSF abnormalities and response to treatment with pyridoxine and folinic acid. Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid Martina Messina, et al https://doi.org/10.1002/jmd2.12347

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00:31:30

Recommendations for diagnosing and managing...

JIMD Podcasts ·

2022/12/23

Dr Nikolas Boy joins the podcast to discuss the recently published third revision of the guidelines for the diagnosis and management of Glutaric Aciduria Type 1. Dr Boy explains what has changed, what has stayed the same, and why these changes have happened. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision Nikolas Boy, et al https://doi.org/10.1002/jimd.12566

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00:39:48

Diagnostics, EXPLORE B and POWER in Porphyria

JIMD Podcasts ·

2022/12/09

Kristen Wheeden of the United Porphyrias Association joins as podcast co-host to ask David Cassiman, Pieter Vermeersch and Amy Dickey about improving diagnostics in porphyria and the outcomes of the EXPLORE B and POWER surveys exploring quality of life. Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias Stefanie Lefever, et al https://doi.org/10.1002/jimd.12545 EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic

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00:06:33

Shortcast: Isolated neurological presentations of...

JIMD Podcasts ·

2022/11/29

Dr Eva Hoytema van Konijnenburg describes the case of a patient with mevalonate kinase deficiency presenting solely with neurological symptoms and without an inflammatory component. Isolated neurological presentations of mevalonate kinase deficiency Eva Hoytema van Konijnenburg, et al https://doi.org/10.1002/jmd2.12348

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00:19:00

Novel CSF biomarkers in GLUT1 deficiency syndrome

JIMD Podcasts ·

2022/11/25

Tessa Peters and Dr Leticia Pías-Peleteiro join the podcast to discuss GLUT1 deficiency syndrome and recent insights around the potential for new biomarkers. Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit Tessa M. A. Peters, et al https://doi.org/10.1002/jimd.12554

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00:10:31

Shortcast: Management of pregnancy in a patient with...

JIMD Podcasts ·

2022/11/21

Jenny McNulty describes the management of a successful pregnancy in a woman with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD). Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency Loai A. Shakerdi, et al https://doi.org/10.1002/jmd2.12284

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00:04:49

Shortcast: Infantile-onset Pompe disease with...

JIMD Podcasts ·

2022/11/14

Dr Mary Riedy discuss an infant with infantile-onset Pompe disease and the challenges of an unusual neutropenia phenotype. Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype Mary Riedy, et al https://doi.org/10.1002/jmd2.12337

en

247 results

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