Trifunctional enzyme deficiency: Adult presentation of a usually fatal ?-oxidation defect
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
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1. Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients;BMC Biology;2023-09-04
2. Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature;European Journal of Medical Genetics;2021-12
3. Rhabdomyolysis - an overview of pathophysiology, diagnostics and therapy;ANASTH INTENSIVMED;2020
4. Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults;Revue Neurologique;2020-05
5. Ocular Manifestations of Inborn Errors of Metabolism;The Eye in Pediatric Systemic Disease;2017
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