Explore engaging discussions on inherited metabolic diseases through various podcasts, including insightful episodes and intriguing mysteries in the field.
Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing
3 mins • Feb 19, 2025
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Recent Episodes
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Feb 19, 2025
Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing
3 mins
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Feb 17, 2025
CBS Deficiency in the E-HOD Registry
16 mins
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Jan 28, 2025
Velmanase alfa for alpha-mannosidosis
26 mins
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Jan 2, 2025
An update on autophagy disorders
49 mins
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Dec 27, 2024
Models in Leigh Syndrome
42 mins
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