Works about INBORN errors of metabolism

Results: 2303
    1

    Mitochondrial fatty acid synthesis and MECR regulate CD4<sup>+</sup> T cell function and oxidative metabolism.

    Published in:
    Journal of Immunology, 2025, v. 214, n. 5, p. 958, doi. 10.1093/jimmun/vkaf034
    By:
    • Steiner, KayLee K;
    • Young, Arissa C;
    • Patterson, Andrew R;
    • Sugiura, Ayaka;
    • Watson, McLane J;
    • Preston, Samuel E J;
    • Zhelonkin, Anton;
    • Jennings, Erin Q;
    • Chi, Channing;
    • Heintzman, Darren R;
    • Pahnke, Andrew P;
    • Toudji, Yasmine T;
    • Hatem, Zaid;
    • Madden, Matthew Z;
    • Arner, Emily N;
    • Sewell, Allison E;
    • Blount, Allison K;
    • Okparaugo, Richmond;
    • Fallman, Emilia;
    • Krystofiak, Evan S
    Publication type:
    Article
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    Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 31, doi. 10.3390/ijns11020031
    By:
    • Berardo, Clarissa;
    • Vasco, Alessandra;
    • Mauri, Alessia;
    • Lucchi, Simona;
    • Cappelletti, Laura;
    • Saielli, Laura;
    • Rizzetto, Manuela;
    • Biganzoli, Davide;
    • Montrasio, Cristina;
    • Postorivo, Diana;
    • Pratiffi, Elisa;
    • Meta, Andrea;
    • Carelli, Stephana;
    • Amorosi, Alessandro;
    • Paci, Sabrina;
    • Cefalo, Graziella;
    • Furlan, Francesca;
    • Menni, Francesca;
    • Gasperini, Serena;
    • Crescitelli, Viola
    Publication type:
    Article
    8

    The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 26, doi. 10.3390/ijns11020026
    By:
    • Wichajarn, Khunton;
    • Sawatjui, Nopporn;
    • Prasongdee, Prinya;
    • Panklin, Amrin;
    • Sornkayasit, Kanda;
    • Chungkanchana, Natchita;
    • Tessiri, Supharada;
    • Wintachai, Preawwalee;
    • Dechyotin, Sumalai;
    • Pasomboon, Chalanda;
    • Ratanapontee, Jilawaporn;
    • Thanakitsuwan, Sureerat;
    • Rattanathongkom, Aree
    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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    Tratamiento de urgencia de la acidemia metilmalónica.

    Published in:
    Acta Pediatrica de Mexico, 2012, v. 33, n. 1, p. 48
    By:
    • Santillán-Aguayo, Enrique;
    • Revilla-Estivil, Nuria;
    • Belmont-Martínez, Leticia;
    • Fernández-Lainez, Q. F. B. Cynthia;
    • Guillén-López, L. N. C. P. Sara;
    • Ibarra-González, M en C. Isabel;
    • Monroy-Santoyo, Susana;
    • Rodríguez-Schmidt, L. N. Romina;
    • Vela-Amieva, Marcela
    Publication type:
    Article
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    Modelo de atención inicial de la fenilcetonuria y otras hiperfenilalaninemias en el Instituto Nacional de Pediatría.

    Published in:
    Acta Pediatrica de Mexico, 2010, v. 31, n. 6, p. 297
    By:
    • Vela-Amieva, Marcela;
    • Ibarra-González, M. Isabel;
    • Ibarra-González, C. Isabel;
    • Monroy-Santoyo, Susana;
    • Fernández-Laínez, Cynthia;
    • Guillén-López, Sara;
    • Belmont-Martínez, Leticia;
    • Hernández-Montiel, Aída;
    • Angel, Ariadna González-del;
    • Ruiz-García, Matilde;
    • Sánchez-Pérez, María del Carmen;
    • Mejía-Navarro, Jesús;
    • de la Luz Iracheta-Gerez, Ma.
    Publication type:
    Article
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    Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.

    Published in:
    Neuroradiology, 2022, v. 64, n. 11, p. 2179, doi. 10.1007/s00234-022-02989-8
    By:
    • Alfonsi, Chiara;
    • Stephan-Otto, Christian;
    • Cortès-Saladelafont, Elisenda;
    • Palacios, Natalia Juliá;
    • Podzamczer-Valls, Inés;
    • Cruz, Nuria Gutiérrez;
    • Jiménez, María Rosario Domingo;
    • Micó, Salvador Ibáñez;
    • Vila, Miguel Tomás;
    • Jeltsch, Kathrin;
    • Hübschmann, Oya Kuseyri;
    • Opladen, Thomas;
    • Fragua, Ramón Velázquez;
    • Gómez, Teresa;
    • Fortuny, Oscar Alcoverro;
    • Jiménez, Inmaculada García;
    • Laso, Eduardo López;
    • Martínez, Ana Roche;
    • López, Jordi Muchart;
    • Garcia-Cazorla, Àngels
    Publication type:
    Article
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    MRI and H-MRS in adenosine kinase deficiency.

    Published in:
    Neuroradiology, 2016, v. 58, n. 7, p. 697, doi. 10.1007/s00234-016-1676-z
    By:
    • Staufner, C.;
    • Blom, H.;
    • Dionisi-Vici, C.;
    • Freisinger, P.;
    • Makhseed, N.;
    • Ballhausen, D.;
    • Kölker, S.;
    • Hoffmann, G.;
    • Harting, I.
    Publication type:
    Article
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    Flatiron Mice and Ferroportin Disease.

    Published in:
    Nutrition Reviews, 2007, v. 65, n. 7, p. 341, doi. 10.1301/nr.2007.jul.341345
    By:
    • Johnson, Erin E.;
    • Wessling-Resnick, Marianne
    Publication type:
    Article
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    Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.

    Published in:
    Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2024, v. 5, n. 2, p. 205, doi. 10.1515/almed-2023-0102
    By:
    • Jasinge, Eresha;
    • Fernando, Mihika;
    • Indika, Neluwa-Liyanage Ruwan;
    • Ratnayake, Pyara Dilani;
    • Gamaathige, Nalin;
    • Ratnaranjith, Ratnanathan;
    • Schroeder, Sabine;
    • Jones, Patricia;
    • Volha, Skrahina;
    • Jayasena, Subhashinie;
    • Gunaratna, Anusha Varuni;
    • Bandara Ekanayake, Asitha Niroshana;
    • Rolfs, Arndt
    Publication type:
    Article
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    Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production.

    Published in:
    Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07070-z
    By:
    • Kiyuna, Ligia Akemi;
    • Krishnamurthy, Kishore Alagere;
    • Homan, Esther B.;
    • Langelaar-Makkinje, Miriam;
    • Gerding, Albert;
    • Bos, Trijnie;
    • Oosterhuis, Dorenda;
    • Overduin, Ruben J.;
    • Schreuder, Andrea B.;
    • de Meijer, Vincent E.;
    • Olinga, Peter;
    • Derks, Terry G. J.;
    • van Eunen, Karen;
    • Bakker, Barbara M.;
    • Oosterveer, Maaike H.
    Publication type:
    Article
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