Works matching DE "INBORN errors of metabolism"


Results: 2274
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    Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03755-8
    By:
    • Rossi, Alice;
    • Pancaldi, Chiara;
    • Regazzi, Maria Giulia;
    • Agnelli, Giulio;
    • Assirelli, Valentina;
    • Barbato, Antonio;
    • Baronio, Federico;
    • Benso, Andrea;
    • Bernabei, Silvia Maria;
    • Biasucci, Giacomo;
    • Botti, Mara;
    • Bonfanti, Cristina;
    • Bordugo, Andrea;
    • Bruni, Giulia;
    • Burlina, Alberto;
    • Candela, Egidio;
    • Carbone, Maria Teresa;
    • Carella, Rosa;
    • Carubbi, Francesca;
    • Cianflone, Annalia
    Publication type:
    Article
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    Quantification of glucose-6-phosphate dehydrogenase activity by spectrophotometry: A systematic review and meta-analysis.

    Published in:
    2020
    By:
    • Pfeffer, Daniel A;
    • Ley, Benedikt;
    • Howes, Rosalind E;
    • Adu, Patrick;
    • Alam, Mohammad Shafiul;
    • Bansil, Pooja;
    • Boum, Yap 2nd;
    • Brito, Marcelo;
    • Charoenkwan, Pimlak;
    • Clements, Archie;
    • Cui, Liwang;
    • Deng, Zeshuai;
    • Egesie, Ochaka Julie;
    • Espino, Fe Esperanza;
    • von Fricken, Michael E;
    • Hamid, Muzamil Mahdi Abdel;
    • He, Yongshu;
    • Henriques, Gisela;
    • Khan, Wasif Ali;
    • Khim, Nimol
    Publication type:
    journal article
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    Crystals Hold the Clue.

    Published in:
    2017
    By:
    • Varghese, Asha K.;
    • Shibu, T. S.;
    • Pushpalatha, M.
    Publication type:
    Case Study
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    A Case of Consanguinity.

    Published in:
    Global Pediatric Health, 2022, p. 1, doi. 10.1177/2333794X221135965
    By:
    • Brown, Carla;
    • Jones-Brooks, Paige;
    • White, Gwenevere;
    • Shearer, Zackary;
    • Baber, Megan
    Publication type:
    Article
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    Movement disorders in the Hfe knockout mouse.

    Published in:
    Nutritional Neuroscience, 2005, v. 8, n. 4, p. 239, doi. 10.1080/10284150500277685
    By:
    • Golub, Mari S.;
    • Germann, Stacey L.;
    • Araiza, Renee S.;
    • Reader, J. Rachel;
    • Griffey, Stephen M.;
    • Kent Lloyd, K. C.
    Publication type:
    Article
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