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Alexander Disease Research Update - Episode #8 - two case reports, natural history study of 21 pediatric patients, management of constipation
Manage episode 322042515 series 2952470
Albee Messing and Amy Waldman discuss the following recent publications:
[01:08] Mateos et al. (2022). Developmental delay and progressive seizures in 2-month-old child with diffuse MRI abnormalities. Brain Pathology e13049
[06:21] Takeuchi et al. (2022) GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease. Radiology Case Reports 17, 771-774 [full text]
[13:48] Mura et al. (2021). Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients. Molecular Genetics and Metabolism 134, 353-358
[18:17] Questions from email – how to manage constipation.
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Chapters
1. Alexander Disease Research Update - Episode #8 - two case reports, natural history study of 21 pediatric patients, management of constipation (00:00:00)
2. Developmental delay and progressive seizures in 2-month-old child with diffuse MRI abnormalities. (00:01:08)
3. GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease. (00:06:21)
4. Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients. (00:13:48)
5. Questions - constipation (00:18:17)
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