Works matching IS 01418955 AND DT 2013 AND VI 36 AND IP 5


Results: 24
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    Clinical and biochemical features associated with BCS1L mutation.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 813, doi. 10.1007/s10545-012-9536-4
    By:
    • Al-Owain, Mohammed;
    • Colak, Dilek;
    • Albakheet, Albandary;
    • Al-Younes, Banan;
    • Al-Humaidi, Zainab;
    • Al-Sayed, Moeen;
    • Al-Hindi, Hindi;
    • Al-Sugair, Abdulaziz;
    • Al-Muhaideb, Ahmed;
    • Rahbeeni, Zuhair;
    • Al-Sehli, Abdullah;
    • Al-Fadhli, Fatima;
    • Ozand, Pinar;
    • Taylor, Robert;
    • Kaya, Namik
    Publication type:
    Article
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    The incidence of inherited porphyrias in Europe.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 849, doi. 10.1007/s10545-012-9544-4
    By:
    • Elder, George;
    • Harper, Pauline;
    • Badminton, Michael;
    • Sandberg, Sverre;
    • Deybach, Jean-Charles
    Publication type:
    Article
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    Antenatal manifestations of mitochondrial disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 805, doi. 10.1007/s10545-012-9567-x
    By:
    • Tavares, Mariana;
    • Santos, Maria;
    • Domingues, Ana;
    • Pratas, João;
    • Mendes, Cândida;
    • Simões, Marta;
    • Moura, Paulo;
    • Diogo, Luísa;
    • Grazina, Manuela
    Publication type:
    Article
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