The Coffin–Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases SA Schrier, JN Bodurtha, B Burton, AE Chudley, MAD Chiong, ... American Journal of Medical Genetics Part A 158 (8), 1865-1876, 2012 | 95 | 2012 |
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 |
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations YH Chiu, YC Chang, YH Chang, DM Niu, YL Yang, J Ye, J Jiang, Y Okano, ... Journal of human genetics 57 (2), 145-152, 2012 | 45 | 2012 |
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency MA Chiong, KG Sim, K Carpenter, W Rhead, G Ho, RKJ Olsen, ... Molecular genetics and metabolism 92 (1-2), 109-114, 2007 | 42 | 2007 |
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 |
Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course MA Chiong, P Procopis, K Carpenter, B Wilcken Pediatric neurology 37 (4), 283-286, 2007 | 24 | 2007 |
Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country LG De Castro-Hamoy, MAD Chiong, SC Estrada, CP Cordero Journal of community genetics 8, 9-15, 2017 | 19 | 2017 |
Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery MA Chiong, BH Bennetts, SI Strasser, B Wilcken Medical journal of Australia 186 (8), 418, 2007 | 19 | 2007 |
Genetic and clinical characteristics of Filipino patients with Gaucher disease MAD Chiong, MJC Racoma, MAR Abacan Molecular Genetics and Metabolism Reports 15, 110-115, 2018 | 12 | 2018 |
Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features MAD Chiong, MA Tan, CP Cordero, EGD Fodra, JS Manliguis, CP Lopez, ... Molecular genetics and metabolism reports 9, 46-53, 2016 | 11 | 2016 |
Lesch–Nyhan disease in a 20-year-old man incorrectly described as developing ‘cerebral palsy’after general anaesthesia in infancy MA Chiong, A Marinaki, J Duley, B Bennetts, R Ouvrier, J Christodoulou Journal of Inherited Metabolic Disease 29, 594-594, 2006 | 11 | 2006 |
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 |
Successful implementation of expanded newborn screening in the Philippines using tandem mass spectrometry CD Padilla, BL Therrell, MMLB Alcausin, MAD Chiong, MAR Abacan, ... International journal of neonatal screening 8 (1), 8, 2022 | 8 | 2022 |
A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry MJC Racoma, MKKB Calibag, CP Cordero, MAR Abacan, MAD Chiong Orphanet Journal of Rare Diseases 16, 1-16, 2021 | 6 | 2021 |
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 |
Translocation Down syndrome among Filipinos and its implications on genetic counseling C David-Padilla, EM Cutiongco-de la Paz, MAD Chiong, GS Charcos, ... Acta Medica Philippina 43 (1), 2009 | 4 | 2009 |
Clinical profiles and outcomes of the most common inherited metabolic diseases in the Philippines: A review of the National Institutes of Health–Institute of Human Genetics … MR Faner, MAD Chiong Acta Medica Philippina 54 (3), 2020 | 3 | 2020 |
A review of the results of chromosomal analyses done at the National Institutes of Health from 1991 to 2007 C David-Padilla, EM Cutiongco-de la Paz, NS Cadag, EAG Salonga, ... Acta Medica Philippina 43 (1), 2009 | 3 | 2009 |
Intravenous pamidronate treatment in Filipino children with moderate to severe osteogenesis imperfecta MMB Alcausin, JKL de Dios, MAD Chiong, BCV Cavan, C David-Padilla Acta Medica Philippina 45 (4), 2011 | 2 | 2011 |
Methylmalonic Acidemia in two Filipino Children MAD Chiong, KID Cruz-Rama, MA Demata, VG Rosales, E Cua-Lobo, ... Acta Medica Philippina 42 (2), 2008 | 2 | 2008 |