Hasil Pencarian - Walla Al-Hertani

  • Menampilkan 1 - 11 hasil dari 11
Perbaiki Hasil
  1. 1
    Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

    Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review oleh Andrea Young, Devidas Menon, Jackie Street, Walla Al-Hertani, Tania Stafinski

    Diterbitkan 2017-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease

    Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease oleh Behshad Charkhand, Morris H. Scantlebury, Aya Narita, Ari Zimran, Walla Al-Hertani

    Diterbitkan 2019-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation

    Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of... oleh Caitlin A. Chang, Xing‐Chang Wei, Steven R. Martin, David S. Sinasac, Walla Al‐Hertani

    Diterbitkan 2019-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    The experience of living with Niemann–Pick type C: a patient and caregiver perspective

    The experience of living with Niemann–Pick type C: a patient and caregiver perspective oleh Emma Golden, Raquel van Gool, Mariesa Cay, Benjamin Goodlett, Amanda Cao, Walla Al-Hertani, Jaymin Upadhyay

    Diterbitkan 2023-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Case report: Chronic pain in a pediatric patient with late-onset pompe disease

    Case report: Chronic pain in a pediatric patient with late-onset pompe disease oleh Amanda Cao, Raquel van Gool, Emma Golden, Benjamin Goodlett, Carlos Camelo, Simona Bujoreanu, Walla Al-Hertani, Jaymin Upadhyay, Jaymin Upadhyay

    Diterbitkan 2023-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum

    Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum oleh Marisa Chard, Juan Pablo Appendino, Luis E. Bello-Espinosa, Colleen Curtis, Jong M. Rho, Xing-Chang Wei, Walla Al-Hertani

    Diterbitkan 2019-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review

    Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review oleh Walla Al-Hertani, Ravi R. Pathak, Obaro Evuarherhe, Gemma Carter, Carolyn R. Schaeffer-Koziol, David A. H. Whiteman, Ekaterina Wright

    Diterbitkan 2024-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    ALG9-CDG: New clinical case and review of the literature

    ALG9-CDG: New clinical case and review of the literature oleh Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani

    Diterbitkan 2017-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

    Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels oleh Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove

    Diterbitkan 2022-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

    Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels oleh Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove

    Diterbitkan 2023-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

    P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis oleh Can Ficicioglu, Nicole Muschol, Barbara Burton, Martin Magner, Mercedes Gil-Campos, Monica Lopez Rodriguez, Parul Jayakar, Allan Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara Cathey, Julia Hennermann, Christina Lampe, Markey McNutt, Florian Lagler, Maurizio Scarpa, Vernon Sutton, Nathalie Guffon

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: