EPISODE · Apr 1, 2022 · 4 MIN
Shortcast: A mild phenotype of mitochondrial trifunctional protein deficiency
from JIMD Podcasts · host Journal of Inherited Metabolic Disease
Dr Kristin Ørstavik explains her team's observations of three patients with a novel mutation in the HADHB gene leading to a mild form of FTP deficiency. Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency Kristin Ørstavik, et al https://doi.org/10.1002/jmd2.12276
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Shortcast: A mild phenotype of mitochondrial trifunctional protein deficiency
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