Search Results - "Alcausin, Maria Melanie Liberty B"

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    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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    Journal Article
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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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    Journal Article
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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

    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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    Journal Article
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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…”
    Get full text
    Journal Article
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