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Introduction/Aims
Easy fatigability, the clinical hallmark of generalized myasthenia gravis (GMG), cannot be detected in a dynamic way. The aim of this study was to assess respiratory function dynamically through diaphragmatic ultrasonography (DUS) in GMG patients.
Methods
GMG patients and controls were recruited in a 1:1 ratio. DUS was performed during one quiet breath and 15 consecutive deep...
Introduction/Aims
Riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency (RR‐MADD) is an autosomal recessive disease chiefly caused by variants of ETFDH affecting fatty acid metabolism. In our cohort, hyperhomocysteinemia (HHcy) was common. In this study we aimed to identify the association between RR‐MADD and HHcy.
Methods
We performed a retrospective review of 13 patients with RR‐MADD...