Showing 1 - 3 results of 3 for search '"Hyperphenylalaninemia"', query time: 0.02s Refine Results
  1. 1
    Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings

    Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings by Alex S. Aguirre, Edison Haro, Alberto Campodónico, Benjamín Arias-Almeida, Alissa Mendoza, Juan Pozo-Palacios, Vanessa Isabel Romero Aguilar

    Published 2024-11-01
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  2. 2
    DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified

    DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified by Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani, Cheuk Wing Fung

    Published 2024-11-01
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  3. 3
    THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT

    THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT by Nikolina Gaćina, Jerko Vučak

    Published 2022-12-01
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