Associated Papers
Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center.
Luan YN et al.
Orphanet Journal of Rare Diseases, 2025
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.
Han J et al.
Turkish Journal of Medical Sciences, 2022
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
Siano MA et al.
Frontiers in Pediatrics, 2021
Dysregulation of neuron differentiation in an autistic savant with exceptional memory.
Song J et al.
Molecular Brain, 2019
31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Lan MY et al.
Clinical Genetics, 2010
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