المؤلفون: Isasi, Eugenia^{Aff1, Aff2}, Wajner, Moacir^{Aff3, Aff4}, Duarte, Juliana Avila, Olivera-Bravo, Silvia^{Aff2, IDs12640024007106_cor4}

المصدر: Neurotoxicity Research: Neurodegeneration, Neuroregeneration, Neurotrophic Action, and Neuroprotection. 42(4)

المؤلفون: Jessica I. Gold, Arianna K. Stefanatos, Jamie L. Fraser, Adeline Vanderver, Sanmati Cuddapah

المصدر: JIMD Reports, Vol 65, Iss 3, Pp 156-162 (2024)

مصطلحات موضوعية: IDH2 inhibitor, novel treatment, organic acidurias, Type II D2‐hydroxyglutaric aciduria, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/eb00fb1250a14ded99b8d3782e23cec9

المؤلفون: Awatef Jelassi, Fahmi Nasrallah, Emna Talbi, Mohamed Bassem Hammami, Rihab Ghodbane, Haifa Sanhaji, Moncef Feki, Naziha Kaabachi, Sameh Hadj-Taieb

المصدر: Saudi Journal of Medicine and Medical Sciences, Vol 12, Iss 1, Pp 27-34 (2024)

مصطلحات موضوعية: incidence, inborn errors metabolism, inherited errors of amino acid metabolism, epidemiology, diagnosis, organic acidurias, tunisia, Medicine

وصف الملف: electronic resource

Relation: https://journals.lww.com/sjmm/fulltext/2024/12010/spectrum_of_organic_aciduria_diseases_in_tunisia_.4.aspx; https://doaj.org/toc/1658-631X; https://doaj.org/toc/2321-4856

URL الوصول: https://doaj.org/article/e45b7e156cec42b184a3e546a168adc5

المؤلفون: Ribas, Graziela Schmitt^{Aff1, Aff2, IDs10571021011566_cor1}, Lopes, Franciele Fátima, Deon, Marion, Vargas, Carmen Regla^{Aff1, Aff2, IDs10571021011566_cor4}

المصدر: Cellular and Molecular Neurobiology. 42(8):2593-2610

المؤلفون: Bösch, Florin^{Aff1, Aff2, Aff3}, Zeltner, Nina A.^{Aff1, Aff2, Aff3}, Baumgartner, Matthias R., Huemer, Martina^{Aff1, Aff4, IDs13023022021832_cor4}, Landolt, Markus A.^{Aff2, Aff3}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

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المؤلفون: O. V. Bugun, N. N. Martynovich, G. P. Bogonosova, T. A. Astahova, L. V. Rychkova

المصدر: Acta Biomedica Scientifica, Vol 6, Iss 5, Pp 112-125 (2021)

مصطلحات موضوعية: inherited metabolic diseases, inborn errors of metabolism, tandem mass spectrometry, aminoacidopathies, organic acidurias, mitochondrial β-oxidation defects, Science

وصف الملف: electronic resource

Relation: https://www.actabiomedica.ru/jour/article/view/3041; https://doaj.org/toc/2541-9420; https://doaj.org/toc/2587-9596

URL الوصول: https://doaj.org/article/7f8dc3e877894ec69a8a235eebdfbd93

المؤلفون: Florin Bösch, Markus A. Landolt, Matthias R. Baumgartner, Susana Fernandez, Patrick Forny, Matthias Gautschi, Sarah C. Grünert, Johannes Häberle, Carolina Horvath, Daniela Karall, Danila Lampis, Marianne Rohrbach, Sabine Scholl-Bürgi, Gabor Szinnai, Martina Huemer

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100876- (2022)

مصطلحات موضوعية: Health-related quality of life, Caregiver burden, Disease severity, Inborn errors of metabolism, Organic acidurias, Urea cycle disorders, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000362; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/006043b424c24b719832e2d1bc930b12

المؤلفون: Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 12-20 (2021)

مصطلحات موضوعية: dystonia, glutaric aciduria type 1, low excretor, organic acidurias, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/c69c947dda504ec285b0e7d24fe948cc

المؤلفون: Burlina, Alberto^Aff2, D’Antiga, Lorenzo^Aff3

المساهمون: D'Antiga, Lorenzo, editor^Aff1

المصدر: Pediatric Hepatology and Liver Transplantation. :603-624