Search Results - "Alcausin, Maria Melanie Liberty B"
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Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1
Published in International journal of neonatal screening (31-08-2024)“…Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic…”
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Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
Published in International journal of neonatal screening (11-01-2023)“…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
Published in International journal of neonatal screening (19-01-2022)“…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…”
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Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines
Published in International journal of neonatal screening (17-06-2021)“…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…”
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Integrating Genetic Services in the Philippine Public Health Delivery System: The Value of Networks
Published in Genes (13-06-2024)“…The delivery of genetic services in developing countries is faced with significant challenges, despite medical and technological advances globally. The…”
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Telegenetics Services in a Tertiary Hospital: Utility and Patient Satisfaction
Published in Acta medica Philippina (2023)Get full text
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Carnitine-acylcarnitine Translocase Deficiency with c.199-10TG Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
Published in International journal of neonatal screening (01-01-2023)“…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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