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
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
JIMD Podcasts
6 minutes 8 seconds
1 month ago
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
In this JIMD Shortcast, Allyson Terrel and Katie Sapp explore the real-world challenges of newborn screening for lysosomal storage disorders, based on a survey of healthcare professionals working at the front line of implementation. The study highlights the limitations of single-tier screening, the value of multi-tier testing, and the growing importance of multidisciplinary collaboration to improve diagnostic clarity and patient outcomes.
Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management
A. Terrell, et al
https://doi.org/10.1002/jmd2.70027
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
