JIMD Podcasts

Journal of Inherited Metabolic Disease

5.0(7개의 평가)
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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.

11월 5일

Brain changes in infantile Pompe disease

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

22분
11월 1일

Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency

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

7분
10월 25일

Gene therapy for mitochondrial disorders

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

26분
10월 11일

Adult outcomes in classic galactosemia

Olivia Garrett, Jared Druss, Estela Rubio-Gozalbo, Gerard Berry, and Judith Fridovich-Keil discuss outcomes in classic galactosemia drawn from patient surveys of 92 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, Estela Rubio-Gozalbo, Gerard T. Berry, Judith L. Fridovich-Keil https://doi.org/10.1002/jimd.12786

35분
10월 4일

Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira

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

30분
9월 27일

Neuronopathic gaucher disease

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

25분
9월 13일

Chorioretinopathy In LCHADD

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

14분
9월 9일

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

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

18분

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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.

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Journal of Inherited Metabolic Disease
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2020년 - 2024년
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JIMD Podcasts

Brain changes in infantile Pompe disease

Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency

Gene therapy for mitochondrial disorders

Adult outcomes in classic galactosemia

Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira

Neuronopathic gaucher disease

Chorioretinopathy In LCHADD

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

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좋아할 만한 다른 항목

JIMD Podcasts

에피소드

Brain changes in infantile Pompe disease

Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency

Gene therapy for mitochondrial disorders

Adult outcomes in classic galactosemia

Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira

Neuronopathic gaucher disease

Chorioretinopathy In LCHADD

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

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소개

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