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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

00:04:45

Shortcast: Expanding the phenotypic and genotypic...

JIMD Podcasts ·

2023/07/28

Dr Emma Glamuzina of the National Metabolic Service in New Zealand, describes a neonatal presentation of CARS2- related mitochondrial disease and the diagnostic challenges this brought in a pre-exome/genome era. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease Jessie Poquérusse, et al https://doi.org/10.1002/jmd2.12360

en

00:24:41

Pregnancy in acute porphyria

JIMD Podcasts ·

2023/07/21

Dr Daphne Vassiliou joins the podcast to discuss past concerns about pregnancy in porphyria and how more data has reassured regarding safety and hi-lighted areas for increased vigilance. Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study Ängla Mantel, et al https://doi.org/10.1002/jimd.12616

en

00:15:31

Gene therapies in mucopolysaccharidoses

JIMD Podcasts ·

2023/07/07

Nicola Brunetti-Pierri of the Telethon Institute of Genetics and Medicine joins the podcast to discuss his recent review looking at the various gene therapy approaches in the mucopolysaccharidoses along with their strengths and limitations. Gene therapies for mucopolysaccharidoses Alessandro Rossi and Nicola Brunetti-Pierri https://doi.org/10.1002/jimd.12626

en

00:05:04

Shortcast: Neonatal presentation of occipital horn...

JIMD Podcasts ·

2023/06/30

Dr Isabelle Adant follows up on a recent review on ATP7A with the case of a neonate presenting with occipital horn syndrome. Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant Isabelle Adant, et al https://doi.org/10.1002/jimd.12621

en

00:23:03

Racial diversity and the S135L variant in galactosemia

JIMD Podcasts ·

2023/06/23

Professor Judy Fridovich-Keil returns to the podcast to explain gaps in research data around the S135L variant in classic galactosemia and why current data sets may not not truly reflect the international experience of galactosemia. A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT Quinton S. Katler, et al https://doi.org/10.1002/jimd.12556 Racial and ethnic diversity of classic and clinical variant galactosemia

en

00:07:03

Shortcast: Increased prevalence of Parkinson's...

JIMD Podcasts ·

2023/06/19

Professor Ranganath discusses his observations around the increased incidence of Parkinson's disease in Alkaptonuria and shares his thoughts on the possible pathophysiology.

en

00:03:45

Shortcast: Late infantile & adult-onset MLD due to...

JIMD Podcasts ·

2023/06/14

Professor Jayesh Sheth discusses two patients diagnosed with MLD following milder presentations, both related to novel missense variants in the PSAP gene. Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India Jayesh Sheth, et al https://doi.org/10.1002/jmd2.12374

en

00:13:31

Gene therapy in a mouse model of MSUD

JIMD Podcasts ·

2023/06/09

Dr Manuel Schiff and Dr Clément Pontoizeau join us for the first JIMD Podcast on Maple Syrup Urine Disease, hi-lighting their recent successes treating a Bckdhb knock-out mouse model using gene therapy. Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy Clément Pontoizeau, et al https://doi.org/10.1002/jimd.12604

en

00:18:05

Key terms and definitions In porphyria

JIMD Podcasts ·

2023/05/26

Professor Sverre Sandberg joins the podcast to discuss recent work looking to establish key terms and definitions in the acute porphyrias, and explains how this will ultimately help bring forward treatment and research. EPNet website: http://porphyria.eu Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network Penelope E. Stein, et al https://doi.org/10.1002/jimd.12612

en

00:17:19

PGM1-CDG: isoforms, phenotyping and gene therapy

JIMD Podcasts ·

2023/05/12

Dr Silvia Radenkovic, Professor Eva Morava and Professor Kent Lai join the podcast to discuss recent insights that may enable prognostication in PGM1-CDG, and a promising gene therapy study that could address the cardiomyopathy that remains untreated by Galactose therapy. The role of PGM1 isoform 2 in PGM1-CDG: One step closer to genotype–phenotype correlation? Silvia Radenkovic, et al https://doi.org/10.1002/jimd.12601 Interested listeners may want to read gene therapy paper discussed

en

00:10:16

A novel UHPLC/HRAM MS approach in LSD screening

JIMD Podcasts ·

2023/04/28

Dr Marne Hagemeijer joins the podcast to explain how mass spectrometry could simplify the approach to screening urine samples for evidence of Lysosomal Storage Disorders. Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders Marne C. Hagemeijer, et al https://doi.org/10.1002/jimd.12597

en

00:04:58

Shortcast: Early treatment of neonatal diabetes with...

JIMD Podcasts ·

2023/04/21

Professor Michel Polak reports success using a specialist preparation of oral glibenclamide in the management of neonatal diabetes in an extreme preterm infant subsequently found to have a KCNJ11 gene variant. Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant Alfonso Galderisi, et al https://doi.org/10.1002/jmd2.12358

en

00:18:49

Cholestasis, oxysterols and clinical conundrums

JIMD Podcasts ·

2023/04/14

Dr Irene Chang and Dr An Dang Do explain how an infant presenting with cholestasis and liver disease kept them guessing, and how the abnormal biochemical findings gave them new insights into other conditions. Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation An N. Dang Do, et al https://doi.org/10.1002/jimd.12595

en

00:04:34

Shortcast: The remarkable journey of one female...

JIMD Podcasts ·

2023/04/04

Dr RaeLynn Forsyth describes a pioneering patient who contributed to the evolution and understanding or Urea Cycle Disorder treatments throughout her life. The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem RaeLynn Forsyth, et al https://doi.org/10.1002/jmd2.12361

en

00:18:50

Fractionated plasma N-glycan profiling and ATP6AP1 - CDG

JIMD Podcasts ·

2023/03/31

Dr Hana Alharbi, Dr Earnest James Paul Daniel, and Dr Andrew C. Edmondson join the podcast to talk about ATP6AP1-CDG and the potential for fractionated plasma N-glycan profiling. Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association Hana Alharbi, et al https://doi.org/10.1002/jimd.12589

en

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

en

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

en

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

en

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

en

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

en

262 results

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