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Mary Anne Chiong
Mary Anne Chiong
University of the Philippines Manila and University of Santo Tomas
Verified email at up.edu.ph - Homepage
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Cited by
Year
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
952012
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
532008
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
452012
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
422007
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
302017
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
242007
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
192017
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
192007
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
122018
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
112016
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
112006
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
92009
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
82022
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
62021
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
52009
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
42009
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
32020
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
32009
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
22011
Methylmalonic Acidemia in two Filipino Children
MAD Chiong, KID Cruz-Rama, MA Demata, VG Rosales, E Cua-Lobo, ...
Acta Medica Philippina 42 (2), 2008
22008
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