Works matching Fatty acid oxidation disorders


Results: 374
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    Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.

    Published in:
    BMC Biology, 2016, v. 14, p. 1, doi. 10.1186/s12915-016-0327-5
    By:
    • van Eunen, Karen;
    • Volker-Touw, Catharina M. L.;
    • Gerding, Albert;
    • Bleeker, Aycha;
    • Wolters, Justina C.;
    • van Rijt, Willemijn J.;
    • Martines, Anne-Claire M. F.;
    • Niezen-Koning, Klary E.;
    • Heiner, Rebecca M.;
    • Permentier, Hjalmar;
    • Groen, Albert K.;
    • Reijngoud, Dirk-Jan;
    • Derks, Terry G. J.;
    • Bakker, Barbara M.
    Publication type:
    Article
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    The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

    Published in:
    European Journal of Pediatrics, 2025, v. 184, n. 6, p. 1, doi. 10.1007/s00431-025-06216-3
    By:
    • Köse, Engin;
    • İnci, Aslı;
    • Yazıcı, Havva;
    • Zübarioğlu, Tanyel;
    • Kılavuz, Sebile;
    • Çıkı, Kısmet;
    • Er, Esra;
    • Balcı, Mehmet Cihan;
    • Kahraman, Ayça Burcu;
    • Önenli Mungan, Neslihan;
    • Aktuğlu Zeybek, Çiğdem;
    • Kalkan Uçar, Sema;
    • Tümer, Leyla;
    • Eminoğlu, Fatma Tuba
    Publication type:
    Article
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    Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 9, doi. 10.3390/ijns11010009
    By:
    • Drole Torkar, Ana;
    • Klinc, Ana;
    • Remec, Ziga Iztok;
    • Rankovic, Branislava;
    • Bartolj, Klara;
    • Bertok, Sara;
    • Colja, Sara;
    • Cuk, Vanja;
    • Debeljak, Marusa;
    • Kozjek, Eva;
    • Repic Lampret, Barbka;
    • Mlinaric, Matej;
    • Mohar Hajnsek, Tinka;
    • Perko, Daša;
    • Stajer, Katarina;
    • Tesovnik, Tine;
    • Trampuz, Domen;
    • Ulaga, Blanka;
    • Kovac, Jernej;
    • Battelino, Tadej
    Publication type:
    Article
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    Sepsis Tablosunda Gelen Yağ Asidi Oksidasyon Bozukluğu.

    Published in:
    Journal of the Child / Çocuk Dergisi, 2014, v. 14, n. 3, p. 125, doi. 10.5222/j.child.2014.125
    By:
    • ALP, Emel EKŞİ;
    • CEBECİ, Sinem ORAL;
    • UYSALOL, Metin;
    • ÇITAK, Agop;
    • KARACA, Meryem;
    • ERTÜRK, Tuğçe
    Publication type:
    Article
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