Hasil Pencarian - Joy Yaplito‐Lee

  • Menampilkan 1 - 6 hasil dari 6
Perbaiki Hasil
  1. 1
    Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature

    Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature oleh Joy Yaplito‐Lee, Gautham Pai, Winita Hardikar, Kai M. Hong, James Pitt, Justine Marum, David J. Amor

    Diterbitkan 2020-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

    Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia oleh Sharmila Kiss, Joy Yaplito Lee, James Pitt, Duncan MacGregor, Jane Wallace, Melanie Marty, Natasha J. Brown

    Diterbitkan 2020-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

    Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease oleh Carolyn Bursle, Eppie M. Yiu, Alison Yeung, Jeremy L. Freeman, Chloe Stutterd, Richard J. Leventer, Adeline Vanderver, Joy Yaplito‐Lee

    Diterbitkan 2020-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

    Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review oleh Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan

    Diterbitkan 2023-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia‐induced acute pancreatitis

    Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia‐induced acute pancreatitis oleh Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G. Bannister, Natasha J. Brown, Maureen S. Evans, Sharmila Kiss, Thomas H. Rozen, Joy Yaplito‐Lee

    Diterbitkan 2024-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

    Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function oleh Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M. Ryan, Colleen D’Arcy, Margot Nash, Sile Smith, Nikeisha J. Caruana, David R. Thorburn, David A. Stroud, Susan M. White, John Christodoulou, Natasha J. Brown

    Diterbitkan 2022-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: