| Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes PP Jumbo-Lucioni, K Garber, J Kiel, I Baric, GT Berry, A Bosch, A Burlina, ... Journal of inherited metabolic disease 35, 1037-1049, 2012 | 102 | 2012 |
| PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis Y Ishizaki, N Yukaya, K Kusuhara, R Kira, H Torisu, K Ihara, Y Sakai, ... Human genetics 127, 411-419, 2010 | 59 | 2010 |
| Maple syrup urine disease (MSUD)—clinical profile of 47 Filipino patients JY Lee, MA Chiong, SC Estrada, EM Cutiongco-De la Paz, CLT Silao, ... Journal of inherited metabolic disease 31, 281-285, 2008 | 53 | 2008 |
| Association of carbamazepine-induced Stevens–Johnson syndrome/toxic epidermal necrolysis with the HLA-B75 serotype or HLA-B*15:21 allele in Filipino patients F Capule, P Tragulpiankit, S Mahasirimongkol, J Jittikoon, ... The Pharmacogenomics Journal 20 (3), 533-541, 2020 | 30 | 2020 |
| Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II-Hunter syndrome MAD Chiong, DM Canson, MAR Abacan, MMP Baluyot, CP Cordero, ... Orphanet Journal of Rare Diseases 12, 1-11, 2017 | 30 | 2017 |
| A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease CLT Silao, CD Padilla, M Matsuo Molecular genetics and metabolism 81 (2), 100-104, 2004 | 29 | 2004 |
| Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network … C Runcharoen, K Fukunaga, I Sensorn, N Iemwimangsa, S Klumsathian, ... Human genome variation 8 (1), 7, 2021 | 21 | 2021 |
| Molecular basis of glucose‐6‐phosphate dehydrogenase deficiency among Filipinos CL Silao, T Shirakawa, K Nishiyama, CPAM Matsuo Pediatrics international 41 (2), 138-141, 1999 | 21 | 1999 |
| Screening pathways through China, the Asia Pacific region, the World V Wiley, D Webster, G Loeber International Journal of Neonatal Screening 5 (3), 26, 2019 | 17 | 2019 |
| Analysis of MxA, IL-4, and IRF-1 genes in Filipino patients with subacute sclerosing panencephalitis JR Pipo-Deveza, K Kusuhara, CLT Silao, MB Lukban, AM Salonga, ... Neuropediatrics 37 (04), 222-228, 2006 | 15 | 2006 |
| Global globin network consensus paper: classification and stratified roadmaps for improved thalassaemia care and prevention in 32 countries BH Halim-Fikri, CW Lederer, AA Baig, SNA Mat-Ghani, ... Journal of Personalized Medicine 12 (4), 552, 2022 | 11 | 2022 |
| Novel cystathionine β‐synthase gene mutations in a Filipino patient with classic homocystinuria CLT Silao, TDF Fabella, KID Rama, SC Estrada Pediatrics International 57 (5), 884-887, 2015 | 11 | 2015 |
| Early diagnosis of maple syrup urine disease using polymerase chain reaction‐based mutation detection CLT Silao, CD Padilla, M Matsuo Pediatrics International 50 (3), 312-314, 2008 | 10 | 2008 |
| Mutations of the phenylalanine hydroxylase (PAH) gene in Filipino patients with phenylketonuria CLT Silao, DM Canson, KN Hernandez, MAD Chiong, ... Acta Medica Philippina 43 (2), 2009 | 9 | 2009 |
| Mutational Analysis of the GALT gene in Filipino patients SC Estrada, DM Canson, C Silao, T Lynn Kobe J. Med. Sci 59 (3), E106-E111, 2013 | 8 | 2013 |
| A Master of Science in Genetic Counseling Program in the Philippines MY Laurino, CD Padilla, MMB Alcausin, CLT Silao, EM dela Paz ACTA Medica Philippina 45 (4), 7-8, 2011 | 8 | 2011 |
| Glucose-6-phosphate dehydrogenase deficiency in Filipino neonates with jaundice CLT Silao, C David-Padilla, EV Uy, R Ernesto Acta Medica Philippina 43 (2), 2009 | 7 | 2009 |
| HLA-A*24:07 as a potential biomarker for carbamazepine-induced Stevens–Johnson syndrome/toxic epidermal necrolysis in Filipino patients F Capule, P Tragulpiankit, S Mahasirimongkol, J Jittikoon, ... Pharmacogenomics 22 (8), 465-472, 2021 | 5 | 2021 |
| Characterization of Mutations and Polymorhisms in the G6PD gene Among Filipino Newborns with Glucose-6-Phosphate Dehydrogenase Deficiency CD Padilla, CES Abaya, EMC de la Paz, CLT Silao, T Shirakawa, ... ACTA Medica Philippina 45 (4), 53-57, 2011 | 5 | 2011 |
| Molecular analysis of the MUT gene in Filipino patients with methylmalonic acidemia CLT Silao, KN Hernandez, DM Canson, SC Estrada, MAD Chiong, ... Acta Medica Philippina 43 (1), 2009 | 5 | 2009 |
Eva Maria Cutiongco-de la PazNational Institutes of Health, University of the Philippines ManilaVerified email at up.edu.ph
