ZARZA We are Zarza, the prestigious firm behind major projects in information technology.
Listen "Mitochondrial Trifunctional Protein Deficiency"
Episode Synopsis
In this episode, Dr Gepke Visser, Dr Sacha Ferdinandusse and (soon to be Dr) Marit Schwantje discuss the Netherlands' experience of disorders of MTP activity detected on newborn screening. They also shed light on late-presenting disease phenotypes related to thermo-sensitivity.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
Marit Schwantje, et al
https://doi.org/10.1002/jimd.12502
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Marit Schwantje, et al
https://doi.org/10.1002/jimd.12503
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
Marit Schwantje, et al
https://doi.org/10.1002/jimd.12502
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Marit Schwantje, et al
https://doi.org/10.1002/jimd.12503
More episodes of the podcast JIMD Podcasts
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
30/12/2025
Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
23/12/2025
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
25/11/2025
IMD Research Round-Up: Mitochondrial disease
11/11/2025
In God we trust