Yew Sing Choy

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

Zabedah Md Yunus, Salina Abdul Rahman, Yew Sing Choy et al. · Journal of Pediatric Endocrinology and Metabolism · 2016 · 41 citations

Overcoming the barriers to diagnosis of Morquio A syndrome

Kaustuv Bhattacharya, Shanti Balasubramaniam, Yew Sing Choy et al. · Orphanet Journal of Rare Diseases · 2014 · 30 citations · Full text

Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children

Zabedah Md Yunus, DP Abg Kamaludin, M Mamat et al. · JIMD Reports · 2011 · 22 citations · Full text

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel et al. · Molecular Genetics and Metabolism · 2023 · 18 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +17

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)

Yew Sing Choy, Kaustuv Bhattacharya, Shanti Balasubramaniam et al. · Molecular Genetics and Metabolism · 2015 · 15 citations

Molecular Diagnostic Techniques, Multidisciplinary Approach, Pathogenesis +5