Search Results - "Alcausin, Maria Melanie Liberty"

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1 by Cavan, Barbra Charina V, de Castro-Hamoy, Leniza G, Abarquez, Conchita G, Maceda, Ebner Bon G, Alcausin, Maria Melanie Liberty B

“…Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic…”
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Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing by Carmona, Suzanne Marie G, Abacan, Mary Ann R, Alcausin, Maria Melanie Liberty B

“…Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and…”
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Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry by Padilla, Carmencita D, Therrell, Jr, Bradford L, Alcausin, Maria Melanie Liberty B, Chiong, Mary Anne D, Abacan, Mary Ann R, Reyes, Ma Elouisa L, Jomento, Charity M, Dizon-Escoreal, Maria Truda T, Canlas, Margarita Aziza E, Abadingo, Michelle E, Posecion, J Edgar Winston C, Abarquez, Conchita G, Andal, Alma P, Elizaga, Anna Lea G, Halili-Mendoza, Bernadette C, Otayza, Maria Paz Virginia K, Millington, David S

“…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…”
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Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines by Padilla, Carmencita D, Therrell, Jr, Bradford L, Alcausin, Maria Melanie Liberty B, de Castro, Jr, Reynaldo C, Gepte, Maria Beatriz P, Reyes, Ma Elouisa L, Jomento, Charity M, Suarez, Riza Concordia N, Maceda, Ebner Bon G, Abarquez, Conchita G, Posecion, J Edgar Winston C, Andal, Alma P, Elizaga, Anna Lea G, Halili-Mendoza, Bernadette C, Otayza, Maria Paz Virginia K, Hoppe, Carolyn C

“…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…”
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Integrating Genetic Services in the Philippine Public Health Delivery System: The Value of Networks by Padilla, Carmencita D, Abadingo, Michelle E, Maceda, Ebner Bon G, Alcausin, Maria Melanie Liberty B

“…The delivery of genetic services in developing countries is faced with significant challenges, despite medical and technological advances globally. The…”
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Functional outcomes of an adult with osteogenesis imperfecta after rehabilitation post bilateral Girdlestone procedure by Supnet, Isabella, Abiera, Joycie Eulah, Alcausin, Maria Melanie Liberty, Sumpaico, Carlo Emmanuel

“…This is a case of a 54-year-old woman managed as a case of osteogenesis imperfecta type 1 who sustained a left subtrochanteric fracture and eventual ankylosis…”
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Acceptance, Knowledge, and Experiences of Pediatric Hematologists in the Philippines on Newborn Screening for Hemoglobinopathies by de Castro, Reynaldo C., Maceda, Ebner Bon G., Alcausin, Maria Melanie Liberty B.

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Telegenetics Services in a Tertiary Hospital: Utility and Patient Satisfaction by Herlao, Irish Alysa V., Maceda, Ebner Bon G., Abacan, Mary Ann R., de Castro-Hamoy, Leniza G., Alcausin, Maria Melanie Liberty B.

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External validation of ELASTIC NET regression models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants by Hawken, Steven, Murphy, Malia S. Q., Ducharme, Robin, Bota, A. Brianne, Wilson, Lindsay A., Cheng, Wei, Tumulak, Ma-Am Joy, Alcausin, Maria Melanie Liberty, Reyes, Ma Elouisa, Qiu, Wenjuan, Potter, Beth K., Little, Julian, Walker, Mark, Zhang, Lin, Padilla, Carmencita, Chakraborty, Pranesh, Wilson, Kumanan

“…Background:  Postnatal gestational age (GA) algorithms derived from newborn metabolic profiles have emerged as a novel method of acquiring population-level…”
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External validation of machine learning models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants by Hawken, Steven, Murphy, Malia S. Q., Ducharme, Robin, Bota, A. Brianne, Wilson, Lindsay A., Cheng, Wei, Tumulak, Ma-Am Joy, Alcausin, Maria Melanie Liberty, Reyes, Ma Elouisa, Qiu, Wenjuan, Potter, Beth K., Little, Julian, Walker, Mark, Zhang, Lin, Padilla, Carmencita, Chakraborty, Pranesh, Wilson, Kumanan

“…Background:  Postnatal gestational age (GA) algorithms derived from newborn metabolic profiles have emerged as a novel method of acquiring population-level…”
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Carnitine-acylcarnitine Translocase Deficiency with c.199-10TG Mutation in Two Filipino Neonates Detected through Parental Carrier Testing by Carmona, Suzanne Marie G, Abacan, Mary Ann R, Alcausin, Maria Melanie Liberty B

“…Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and…”
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AB122. Occurrence of birth defects at the Philippine General Hospital, 2013–2014: a prospective study by Alcausin, Maria Melanie Liberty, Sur, Aster Lynn D., Tumulak, Ma-Am Joy R., Padilla, Carmencita D.

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External validation of machine learning models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants: version 2; peer review: 3 approved, 1 approved with reservations by Hawken, Steven, Murphy, Malia S Q, Ducharme, Robin, Bota, A Brianne, Wilson, Lindsay A, Cheng, Wei, Ma-Am, Joy Tumulak, Maria Melanie Liberty Alcausin, Reyes, Ma Elouisa, Qiu, Wenjuan, Potter, Beth K, Little, Julian, Walker, Mark, Zhang, Lin, Padilla, Carmencita, Chakraborty, Pranesh, Wilson, Kumanan

“…Background: Postnatal gestational age (GA) algorithms derived from newborn metabolic profiles have emerged as a novel method of acquiring population-level…”
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AB058. Newborn screening in preterm babies at the Newborn Screening Center-National Institutes of Health, Manila: impact, implications, and outcomes on its first year of implementation by Dion-Berboso, April Grace, Cabic, Alpha Grace, Carluen-Nario, Isabel, Valeza, Geralyn, Alcausin, Maria Melanie Liberty

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Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing by Carmona, Suzanne Marie G, Abacan, Mary Ann R, Alcausin, Maria Melanie Liberty B

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