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Shortcast: A case of hyperlysinemia identified by urine newborn screening

EPISODE · Dec 29, 2023 · 4 MIN

Shortcast: A case of hyperlysinemia identified by urine newborn screening

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy. A case of hyperlysinemia identified by urine newborn screening Mehdi Yeganeh, et al https://doi.org/10.1002/jmd2.12399

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Shortcast: A case of hyperlysinemia identified by urine newborn screening

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