Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Hypercholesterolemia treatment in a patient with family hypercholesterolemia and myopathy due to carnitine palmitoyltransferase II deficiency with PCSK9 inhibitors.
Luque Linero P et al.
Neurologia, 2022
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.
Habarou F et al.
Molecular Genetics and Metabolism Reports, 2015
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