Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult
Article in AACE Clinical Case Reports (November 2022)
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Clinical characteristics and electron transfer flavoprotein dehydrogenase genetic mutations in 26 patients with riboflavin reactive lipid deposition myopathy
Article in Chinese Journal of Neuromedicine (May 2022)
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
Article in European Journal of Human Genetics (December 2021)