Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Catherine Lynn T. Silao"'
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Externí odkaz:
https://doaj.org/article/1e97f233e3214bddb9ff689cd0fadb96
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 60-66 (2019)
ABSTRACT Classic galactosemia is an autosomal recessive disorder caused by deleterious variants in the galactose‐1‐phosphate uridylyltransferase (GALT) gene. GALT enzyme deficiency leads to an increase in the levels of galactose and its metabolit
Externí odkaz:
https://doaj.org/article/7f122b0653b34e97932c372ad6e444ea
Autor:
Catherine Lynn T. Silao
Publikováno v:
Intersections of Nutrition: Retracing Yesterday, Redefining Tomorrow ISBN: 9783318071696
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d902b70c030b6e5754d95b30e4301535
https://doi.org/10.1159/000528991
https://doi.org/10.1159/000528991
Autor:
Lara Theresa Alentajan-Aleta, Surakameth Mahasirimongkol, Josephine Casanova-Gutierrez, Jiraphun Jittikoon, Nuanjun Wichukchinda, Raymark Salonga, Catherine Lynn T. Silao, Francisca Roa, Pramote Tragulpiankit, Katrina Faith San Gabriel, Jay-V James G. Barit, Leonor Cabral-Lim, Jose Paciano Baltazar Reyes, Francis R. Capule
Publikováno v:
Pharmacogenomics
Aim: A case-control study was conducted in Filipino patients to determine the association between HLA alleles and carbamazepine-induced Stevens–Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN). Materials & methods: A retrospective review of
Autor:
Nuanjun Wichukchinda, Leonor Cabral-Lim, Pramote Tragulpiankit, Surakameth Mahasirimongkol, Lara Theresa Alentajan-Aleta, Jose Paciano Baltazar Reyes, Jay-V James G. Barit, Katrina Faith San Gabriel, Jiraphun Jittikoon, Raymark Salonga, Josephine Casanova-Gutierrez, Francisca Roa, Francis R. Capule, Catherine Lynn T. Silao
Publikováno v:
The Pharmacogenomics Journal. 20:533-541
A case-control study was conducted to investigate the association of HLA-A alleles, HLA-B alleles including HLA-B*15:02 and HLA-B75 serotype with carbamazepine-induced SJS/TEN in Filipino patients. A retrospective review of medical records was perfor
Autor:
Bin Hashim, Halim-Fikri, Carsten W, Lederer, Atif Amin, Baig, Siti Nor Assyuhada, Mat-Ghani, Sharifah-Nany Rahayu-Karmilla, Syed-Hassan, Wardah, Yusof, Diana, Abdul Rashid, Nurul Fatihah, Azman, Suthat, Fucharoen, Ramdan, Panigoro, Catherine Lynn T, Silao, Vip, Viprakasit, Norunaluwar, Jalil, Norafiza, Mohd Yasin, Rosnah, Bahar, Veena, Selvaratnam, Norsarwany, Mohamad, Nik Norliza, Nik Hassan, Ezalia, Esa, Amanda, Krause, Helen, Robinson, Julia, Hasler, Coralea, Stephanou, Raja-Zahratul-Azma, Raja-Sabudin, Jacques, Elion, Ghada, El-Kamah, Domenico, Coviello, Narazah, Yusoff, Zarina, Abdul Latiff, Chris, Arnold, John, Burn, Petros, Kountouris, Marina, Kleanthous, Raj, Ramesar, Bin Alwi, Zilfalil, On Behalf Of The Global Globin Network Ggn
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 4; Pages: 552
The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic diagnosis, clinical services, and research in low- and middle-income coun
Autor:
Catherine Lynn T. Silao
Publikováno v:
Acta Medica Philippina. 51
In the beginning, medical genetics was concerned only with rare single gene or chromosomal disorders. However, the Human Genome Project has made available information of invaluable diagnostic and therapeutic importance. It links the genome with human
Autor:
Terence Diane F. Fabella, Maria Liza T. Naranjo, Catherine Lynn T. Silao, Carmencita D. Padilla, Ernesto D. J. Yuson
Publikováno v:
Acta Medica Philippina. 54
Introduction. Thalassemias and hemoglobinopathies are autosomal-recessive red blood cell disorders affectinghemoglobin (Hb) quantity and/or quality. Clinical manifestations vary from clinically asymptomatic to transfusion dependent individuals. These
Autor:
Ellen S. Regalado, Catherine Lynn T. Silao, Mercy Y. Laurino, Carmencita D. Padilla, Romer J. Guerbo, Ernesto R. Gregorio
Publikováno v:
Acta Medica Philippina. 54
Introduction. Midwives play an important role in promoting newborn screening (NBS) and they ensure that all Filipino newborns are offered screening for life-threatening metabolic conditions. Of the disorders included in NBS, Glucose 6 Phosphate Dehyd
Autor:
Aumpika Kesornsit, Shamsul Mohd Zain, Myo Thant, Insee Sensorn, Ly Le, Hilyatuz Zahroh, Bassam R. Ali, Maria Koromina, Nareenart Iemwimangsa, Chakkaphan Runcharoen, Dzul Azri Mohamed Noor, Catherine Lynn T. Silao, Taisei Mushiroda, Zahurin Mohamed, Sengchanh Kounnavong, Dalouny Xayavong, Christina Mitropoulou, Angkana Charoenyingwattana, Sukanya Wattanapokayakit, Koya Fukunaga, Sommon Klumsathian, Evangelia-Eirini Tsermpini, George P. Patrinos, Somphou Sayasone, Jose B. Nevado, Tin Maung Hlaing, Zeina N. Al-Mahayri, Zoe Kordou, Kinasih Prayuni, Wasun Chantratita, Athina Tsikrika, Surakameth Mahasirimongkol, Yuh Fen Pung, Rika Yuliwulandari, Hang Tong, Phonepadith Xangsayarath, Francis R. Capule, Ioannis Liopetas, Nam S Vo
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-6 (2021)
Human Genome Variation, Vol 8, Iss 1, Pp 1-6 (2021)
Pharmacogenomics can enhance the outcome of treatment by adopting pharmacogenomic testing to maximize drug efficacy and lower the risk of serious adverse events. Next-generation sequencing (NGS) is a cost-effective technology for genotyping several p