Publications by authors named "Joo San Tan"
Article Synopsis
- Multiple acyl-CoA dehydrogenase deficiency (MADD) is a genetic disorder affecting fatty acid metabolism that leads to lipid storage myopathy (LSM), and this study focuses on a Malaysian group of patients.
- The research involved sequencing the electron-transfer flavoprotein dehydrogenase gene in LSM patients from a muscle biopsy database, revealing that 82% had MADD mutations, predominantly among Chinese and Malay individuals.
- The findings highlight a late-onset form of the disease that responds well to riboflavin treatment, with a novel mutation and similarities to cases in southern China, suggesting the need for increased awareness of MADD in diverse populations.
Telbivudine, a thymidine nucleoside analog, is a common therapeutic option for chronic hepatitis B infection. While raised serum creatine kinase is common, myopathy associated with telbivudine is rare. Reports on its myopathological features are few and immunohistochemical analyses of inflammatory cell infiltrates have not been previously described.
View Article and Find Full Text PDFIntroduction: Choline acetyltransferase (CHAT) gene mutations cause a rare presynaptic congenital myasthenic syndrome due to impaired acetylcholine resynthesis.
Methods: We report 2 Kadazandusun brothers with novel heterozygous CHAT mutations.
Results: The siblings were from a family of 7 children of nonconsanguineous parents, 3 who died from apneic crises.