Publications by authors named "Conchita G Abarquez"
Article Synopsis
- Hereditary tyrosinemia type I (HT1) is a serious genetic condition that can lead to liver and kidney failure, and can affect the nervous system, but it can be detected early through newborn screening.
- A study focused on 16 Filipino patients diagnosed with HT1 between 2014 and 2022 found that the average age for starting treatment was just under a month old, with specific biochemical markers like high tyrosine levels indicating the disorder.
- The most common symptoms observed included issues with blood clotting, elevated alpha fetoprotein levels, and anemia, while the predominant genetic variant found among patients was the homozygous c.122T>C p.Leu41Pro mutation.
Newborn bloodspot screening (NBS) began as a research project in the Philippines in 1996 and was mandated by law in 2004. The program initially included screening for five conditions, with a sixth added in 2012. As screening technology and medical knowledge have advanced, NBS programs in countries with developed economies have also expanded, not only in the number of newborns screened but also in the number of conditions included in the screening.
View Article and Find Full Text PDFThe Philippine newborn bloodspot screening (NBS) program began in 1996 with 24 hospitals and was formalized by legislation in 2004. The NBS panel was recently expanded to include a number of additional hereditary congenital conditions. Expertise and experiences from other NBS programs already screening for hemoglobinopathies were essential to its successful integration into the ongoing dried bloodspot NBS program in the Philippines.
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