JIMD Podcasts

JIMD Podcasts

Por: Journal of Inherited Metabolic Disease
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.
244 episodios disponibles

Latest episodes of the podcast JIMD Podcasts

Mostrando página 5 de 13

Pregnancy in phenylketonuria 24/05/2024
Acute liver failure? Think metabolic 10/05/2024
Aicardi-Goutières syndrome 26/04/2024
Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital 19/04/2024
Pregnancy in Urea Cycle Disorders 12/04/2024
Shortcast: Clinical experience with glycerol phenylbutyrate in 20 patients with UCDs 05/04/2024
Liver directed gene therapy 28/03/2024
Shortcast: Psychosocial issues and coping strategies in families affected by long-chain FAOD 22/03/2024
BH4 in tyrosine hydroxylase deficiency 15/03/2024
Shortcast: Lysinuric protein intolerance exhibiting RTA/Fanconi syndrome in a Japanese woman 08/03/2024
How to proceed after a "negative" exome 29/02/2024
Shortcast: Neuropsychological stability in classical galactosemia: A pilot study in 10 adults 23/02/2024
Food or medicine? Nutritional therapies in IMD 16/02/2024
Metabolic mysteries: Three children with neurological symptoms and coagulopathy 09/02/2024
Movement disorders and mRNA therapy in Arginosuccinic aciduria 02/02/2024
Metabolic mysteries: Recurrent miscarriage and congenital anomalies 26/01/2024
Hepatic presentations in mitochondrial depletion syndromes 19/01/2024
Shortcast: Lysosomal storage disorders identified in adult population from India 12/01/2024
Genomic newborn screening: are we entering a new era of screening? 05/01/2024
Shortcast: A case of hyperlysinemia identified by urine newborn screening 29/12/2023
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