Search Results - "Inborn error of metabolism"

Suggested Topics within your search.
Refine Results
  1. 61
    Cover Image

    A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection by Colleen Donnelly, Lissette Estrella, Ilona Ginevic, Jaya Ganesh

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  2. 62
    Cover Image

    Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques by Mariangela Martino, Jacopo Sartorelli, Vincenza Gragnaniello, Alberto Burlina

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  3. 63
    Cover Image

    Frequency inborn error of mitochondrial function in Mosul and Kurdistan region by Ashwaq N. Abbas, Mwafak K. Hasan, Muhammad A. Ahmed

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  4. 64
    Cover Image

    Frequency inborn error of mitochondrial function in Mosul and Kurdistan region by Ashwaq N. Abbas, Mwafak K. Hasan, Muhammad A. Ahmed

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  5. 65
    Cover Image

    Development of Strategies to Decrease False Positive Results in Newborn Screening by Sabrina Malvagia, Giulia Forni, Daniela Ombrone, Giancarlo la Marca

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  6. 66
    Cover Image

    Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies by Feda E. Mohamed, Feda E. Mohamed, Fatma Al-Jasmi, Fatma Al-Jasmi, Fatma Al-Jasmi

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  7. 67
    Cover Image

    Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report by Yazeed Alayed MD, Wesam Alghamdi MD, Rafah Alyousef MD

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  8. 68
    Cover Image

    Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis by Morriss Michael C, Moore Warren H, Baker Susan S, Taylor William, Reid Barbara, Belmont John W, Podrebarac Susan M, Glass Nancy, Schwartz I David

    Published 2002
    Connect to this object online.
    Book

    Save to List
    Saved in:
  9. 69
    Cover Image

    Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France by Charles R. Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain, David Cheillan

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  10. 70
    Cover Image

    Medium chain acyl-CoA dehydrogenase deficiency in a premature infant by Steven F. Dobrowolski, Lina Ghaloul-Gonzalez, Jerry Vockley

    Published 2017
    Connect to this object online.
    Book

    Save to List
    Saved in:
  11. 71
    Cover Image

    Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report by Hasani Hewavitharana, Eresha Jasinge, Hiranya Abeysekera, Jithangi Wanigasinghe

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  12. 72
    Cover Image

    Prenatal diagnosis in Islamic countries: A narrative review in 2013 by Mehrnoush Kosaryan, Khadijeh Rabiei

    Published 2014
    Connect to this object online.
    Book

    Save to List
    Saved in:
  13. 73
    Cover Image

    Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease by Bennett LL, Turcotte K

    Published 2015
    Connect to this object online.
    Book

    Save to List
    Saved in:
  14. 74
    Cover Image

    Hyperamonemia in children. Study of 72 cases by Jiménez Pérez Mario, Ibarra González Isabel, Fernández Lainez Cinthya

    Published 2014
    Connect to this object online.
    Book

    Save to List
    Saved in:
  15. 75
    Cover Image

    Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations by Patrice K. Held, Emily Singh, Jessica Scott Schwoerer

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  16. 76
    Cover Image

    First successful outcomes of pegvaliase (PALYNZIQ) in children by Majid Alfadhel, Rayyan Albarakati

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  17. 77
    Cover Image

    Transient Hyperammonemia of the Newborn: A Case Study by Amir Kamal Hardani, Majid Aminzadeh

    Published 2018
    Connect to this object online.
    Book

    Save to List
    Saved in:
  18. 78
    Cover Image

    Prenatal diagnosis in Islamic countries: A narrative review in 2013 by Mehrnoush Kosaryan, Khadijeh Rabiei

    Published 2014
    Connect to this object online.
    Book

    Save to List
    Saved in:
  19. 79
    Cover Image

    Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature by Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz, Gonzalo P. Mendez, Zeynep Coban-Akdemir, Zeynep Coban-Akdemir, Bo Yuan, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, Lindsay C. Burrage, James R. Lupski, James R. Lupski, James R. Lupski, Ivan K. Chinn, Ivan K. Chinn, Tiphanie P. Vogel, Tiphanie P. Vogel, Jordan S. Orange, M. Cecilia Poli, M. Cecilia Poli, M. Cecilia Poli

    Published 2021
    Connect to this object online.
    Book

    Save to List
    Saved in:
  20. 80
    Cover Image

    Congenital erythropoietic porphyria: Insight into the molecular basis of the disease by Arun Kumar Harith, Sandeep Arora, Seema Kapoor, Bhaskar Mukherjee

    Published 2016
    Connect to this object online.
    Book

    Save to List
    Saved in:

Search Tools: