Hasil Pencarian - Erle Kristensen

  • Menampilkan 1 - 8 hasil dari 8
Perbaiki Hasil
  1. 1
    Fasting and non‐fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease

    Fasting and non‐fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease oleh Trine Tangeraas, Erle Kristensen, Lars Mørkrid, Elisabeth Elind, Yngve Thomas Bliksrud, Lars Eide

    Diterbitkan 2023-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study

    Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study oleh Vibeke Arntsen, Vibeke Arntsen, Ahmed Jamali, Alma Sikiric, Erle Kristensen, Erle Kristensen, Trine Tangeraas, Guste Kupliauskiene, Sigurbjörg Stefansdottir, Laurence A. Bindoff, Laurence A. Bindoff, Trond Sand, Trond Sand, Eylert Brodtkorb, Eylert Brodtkorb

    Diterbitkan 2024-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation

    Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation oleh Galina Tsykunova, Erle Kristensen, Asbjørg Stray-Pedersen, Øyvind Bruserud, Ida Wiig Sørensen, Øystein Bruserud, Tor Henrik Anderson Tvedt

    Diterbitkan 2023-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study

    Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study oleh Erle Kristensen, Linda Mathisen, Siren Berland, Claus Klingenberg, Eylert Brodtkorb, Magnhild Rasmussen, Trine Tangeraas, Yngve T. Bliksrud, Shamima Rahman, Laurence Albert Bindoff, Omar Hikmat

    Diterbitkan 2024-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency

    Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency oleh Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud

    Diterbitkan 2022-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway

    Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway oleh Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves, Rolf D. Pettersen

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency

    Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency oleh Hans-Otto Böhm, Mazyar Yazdani, Elise Mørk Sandås, Anja Østeby Vassli, Erle Kristensen, Helge Rootwelt, Hanne Bendiksen Skogvold, Eylert Brodtkorb, Katja Benedikte Prestø Elgstøen

    Diterbitkan 2022-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

    Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses oleh Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen

    Diterbitkan 2020-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: