Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Maria Melanie Liberty B. Alcausin"'
Autor:
Barbra Charina V. Cavan, Leniza G. de Castro-Hamoy, Conchita G. Abarquez, Ebner Bon G. Maceda, Maria Melanie Liberty B. Alcausin
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 59 (2024)
Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS). The o
Externí odkaz:
https://doaj.org/article/d0454ed7b0a34f02a0077561ac2bcb4e
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 1, p 4 (2023)
Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and hypoglycemia. A high index of suspicion is needed to recognize the disorder. The case is o
Externí odkaz:
https://doaj.org/article/c5f23e9e79d346d8b41a4ca0ebf604fe
Autor:
Carmencita D. Padilla, Bradford L. Therrell, Maria Melanie Liberty B. Alcausin, Mary Anne D. Chiong, Mary Ann R. Abacan, Ma. Elouisa L. Reyes, Charity M. Jomento, Maria Truda T. Dizon-Escoreal, Margarita Aziza E. Canlas, Michelle E. Abadingo, J. Edgar Winston C. Posecion, Conchita G. Abarquez, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza, David S. Millington
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 8 (2022)
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 kn
Externí odkaz:
https://doaj.org/article/1ec97ac092544d7fa54aa6e5b45b9629
Autor:
Carmencita D. Padilla, Bradford L. Therrell, Maria Melanie Liberty B. Alcausin, Reynaldo C. de Castro, Maria Beatriz P. Gepte, Ma. Elouisa L. Reyes, Charity M. Jomento, Riza Concordia N. Suarez, Ebner Bon G. Maceda, Conchita G. Abarquez, J. Edgar Winston C. Posecion, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza, Carolyn C. Hoppe
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 30 (2021)
The 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
Externí odkaz:
https://doaj.org/article/d050ea39490d46f1afcff965413171c1
Autor:
Carmencita D. Padilla, Bradford L. Therrell, Maria Melanie Liberty B. Alcausin, Mary Anne D. Chiong, Mary Ann R. Abacan, Ma. Elouisa L. Reyes, Charity M. Jomento, Maria Truda T. Dizon-Escoreal, Margarita Aziza E. Canlas, Michelle E. Abadingo, J. Edgar Winston C. Posecion, Conchita G. Abarquez, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza, David S. Millington
Publikováno v:
International Journal of Neonatal Screening; Volume 8; Issue 1; Pages: 8
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 kn
Autor:
Maria Melanie Liberty B. Alcausin, Ebner Bon G. Maceda, Joycie Eulah Abiera, Gracia Cielo E Balce, Maria Glorian B Tomen
Publikováno v:
Global Journal of Rare Diseases. :027-029
Skeletal dysplasias comprise a heterogenous group of genetic disorders that have generalized abnormalities in cartilage and bone. Although individually rare, collectively it is common with an estimate of 1 in 2000 to 3000.
Prevalence of Birth Defects among Neonates Born at the Philippine General Hospital from 2011 to 2014
Publikováno v:
Acta Medica Philippina. 51
Objective. The study aimed to determine the prevalence of birth defects among neonates born at the Philippine General Hospital (PGH) from January 2011 to December 2014. Methods. Monthly censuses of all deliveries from January 2011 to December 2014 we
Autor:
Eileen M. Shore, Melissa Mae P. Baluyot, Frederick S. Kaplan, Maria Melanie Liberty B. Alcausin
Publikováno v:
Acta Medica Philippina. 54
Fibrodysplasia ossificans progressiva (FOP) is a debilitating, rare, autosomal dominant disorder of connective tissue characterized by malformed great toes and by progressive endochondral ossification of extra-skeletal sites (e.g., muscles, tendons,
Autor:
Maria Melanie Liberty B. Alcausin, Ebner Bon G. Maceda, Faustine Richelle C. Ong, Jeffrey T. Manto, Jochrys I. Estanislao, Gerardo L. Beltran
Publikováno v:
Acta Medica Philippina. 54
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia whose most common features include late closure of fontanelles, absent or hypoplastic clavicles, and dental abnormalities. This disorder is primarily due to mutations in RUNX2
Autor:
Conchita G. Abarquez, Carmencita D. Padilla, Carolyn Hoppe, Maria Paz Virginia K. Otayza, Bradford L. Therrell, J. Edgar Winston C. Posecion, Riza Concordia N. Suarez, Alma P. Andal, Anna Lea G. Elizaga, Maria Melanie Liberty B. Alcausin, Ebner Bon G. Maceda, Ma. Elouisa L. Reyes, Bernadette C. Halili-Mendoza, Reynaldo C. de Castro, Maria Beatriz P. Gepte, Charity M. Jomento
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 30, p 30 (2021)
International Journal of Neonatal Screening
Volume 7
Issue 2
International Journal of Neonatal Screening
Volume 7
Issue 2
The 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