Works about INBORN errors of metabolism

Results: 2266
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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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    Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.937
    By:
    • Ibarra‐González, Isabel;
    • Fernández‐Lainez, Cynthia;
    • Alcántara‐Ortigoza, Miguel Angel;
    • González‐Del Angel, Ariadna;
    • Fernández‐Henández, Liliana;
    • Guillén‐López, Sara;
    • Belmont‐Martínez, Leticia;
    • López‐Mejía, Lizbeth;
    • Varela‐Fascinetto, Gustavo;
    • Vela‐Amieva, Marcela
    Publication type:
    Article
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    Novel insights into diabetes mellitus due to DNAJC3‐defect: Evolution of neurological and endocrine phenotype in the pediatric age group.

    Published in:
    Pediatric Diabetes, 2020, v. 21, n. 7, p. 1176, doi. 10.1111/pedi.13098
    By:
    • Ozon, Z. Alev;
    • Alikasifoglu, Ayfer;
    • Kandemir, Nurgun;
    • Aydin, Busra;
    • Gonc, E. Nazli;
    • Karaosmanoglu, Beren;
    • Celik, Nur Berna;
    • Eroglu‐Ertugrul, Nesibe G.;
    • Taskiran, Ekim Z.;
    • Haliloglu, Goknur;
    • Oguz, Kader Karli;
    • Kiper, Pelin Ozlem;
    • Yalnizoglu, Dilek;
    • Utine, Gulen Eda;
    • Alikasifoglu, Mehmet
    Publication type:
    Article
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