In this episode of the JIMD Podcast, we explore manganese transporter disorders with Dr Karin Tuschl, Dr Suvasini Sharma and Prof John Spencer, covering clinical red flags, MRI clues, EDTA chelation, and the urgent search for safer, oral treatments for hypermanganesemia with dystonia.
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2
Sherry Fang, et al
https://doi.org/10.1002/jimd.70031
Removal of Toxic Metabolites—Chelation: Manganese Disorders
Hendrik Vogt, et al
https://doi.org/10.1002/jimd.70107
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In this episode of the JIMD Podcast, we explore manganese transporter disorders with Dr Karin Tuschl, Dr Suvasini Sharma and Prof John Spencer, covering clinical red flags, MRI clues, EDTA chelation, and the urgent search for safer, oral treatments for hypermanganesemia with dystonia.
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2
Sherry Fang, et al
https://doi.org/10.1002/jimd.70031
Removal of Toxic Metabolites—Chelation: Manganese Disorders
Hendrik Vogt, et al
https://doi.org/10.1002/jimd.70107
Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS
JIMD Podcasts
7 minutes 38 seconds
4 weeks ago
Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS
A child with severe developmental delay and an early-onset tumour sets the stage for a remarkable case of genetic investigation. In this episode, Sally Ann Lynch and Alfonso D’Alessio uncover how functional testing transformed an uncertain variant into a key diagnostic insight.
Read the article: https://doi.org/10.1002/ajmg.a.64275
JIMD Podcasts
In this episode of the JIMD Podcast, we explore manganese transporter disorders with Dr Karin Tuschl, Dr Suvasini Sharma and Prof John Spencer, covering clinical red flags, MRI clues, EDTA chelation, and the urgent search for safer, oral treatments for hypermanganesemia with dystonia.
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2
Sherry Fang, et al
https://doi.org/10.1002/jimd.70031
Removal of Toxic Metabolites—Chelation: Manganese Disorders
Hendrik Vogt, et al
https://doi.org/10.1002/jimd.70107
