يعرض 1 - 10 نتائج من 98 نتيجة بحث عن '"VLCADD"', وقت الاستعلام: 1.01s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families

    المؤلفون: Lulu Li, Yue Tang, Jinqi Zhao, Lifei Gong, Nan Yang, Shunan Wang, Haihe Yang, Yuanyuan Kong

    المصدر: Frontiers in Genetics, Vol 15 (2024)

    مصطلحات موضوعية: very-long-chain acyl-CoA dehydrogenase deficiency, VLCADD, ACADVL, genetic testing, rare disease, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1433160/full; https://doaj.org/toc/1664-8021

    URL الوصول: https://doaj.org/article/c69c10fbbde54187b1d22a6059abe833

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  2. 2
    دورية أكاديمية
    Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives

    المؤلفون: Sarah Crawford, Elizabeth Sablon, Nadia Ali, Ami R. Rosen, Patricia L. Hall, Juanita Neira Fresneda

    المصدر: International Journal of Neonatal Screening, Vol 9, Iss 4, p 53 (2023)

    مصطلحات موضوعية: VLCADD, caregiver, barriers, medical diet, rhabdomyolysis, cardiomyopathy, Pediatrics, RJ1-570

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2409-515X/9/4/53; https://doaj.org/toc/2409-515X

    URL الوصول: https://doaj.org/article/a52652d262d2492898244d5ed1351b69

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  3. 3
    دورية أكاديمية
    Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

    المؤلفون: David Olsson, Michela Barbaro, Charlotte Haglind, Maria Halldin, Svetlana Lajic, Sara Tucci, Rolf H. Zetterström, Anna Nordenström

    المصدر: JIMD Reports, Vol 63, Iss 2, Pp 181-190 (2022)

    مصطلحات موضوعية: clinical outcome, newborn screening, Sweden, very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD), 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/8328a7b424524de6862a3d3efb445668

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  4. 4
    دورية أكاديمية
    Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene

    المؤلفون: Beatrice Labella, Gaetana Lanzi, Stefano Cotti Piccinelli, Filomena Caria, Simona Damioli, Barbara Risi, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto

    المصدر: Brain Sciences, Vol 13, Iss 8, p 1178 (2023)

    مصطلحات موضوعية: lipid myopathy, ACADVL, VLCAD, VLCADD, myoglobinuria, rhabdomyolysis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2076-3425/13/8/1178; https://doaj.org/toc/2076-3425

    URL الوصول: https://doaj.org/article/f5347bd49a73490cb7331b28aed8a63b

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  5. 5
    دورية أكاديمية
    Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

    المؤلفون: Marne C. Hagemeijer, Esmee Oussoren, George J. G. Ruijter, Willem Onkenhout, Hidde H. Huidekoper, Merel S. Ebberink, Hans R. Waterham, Sacha Ferdinandusse, Maaike C. deVries, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Karlien L. M. Coene, Henk J Blom

    المصدر: JIMD Reports, Vol 61, Iss 1, Pp 12-18 (2021)

    مصطلحات موضوعية: MADD, newborn screening, riboflavin deficiency, VLCADD, 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/cb91c53ae02a4567a0df7f2ee355599a

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  6. 6
    دورية أكاديمية
    A Distinctive Metabolomics Profile and Potential Biomarkers for Very Long Acylcarnitine Dehydrogenase Deficiency (VLCADD) Diagnosis in Newborns

    المؤلفون: Rajaa Sebaa, Reem H. AlMalki, Wafaa Alseraty, Anas M. Abdel Rahman

    المصدر: Metabolites, Vol 13, Iss 6, p 725 (2023)

    مصطلحات موضوعية: VLCADD, newborns, untargeted metabolomics profiling, potential biomarkers, Microbiology, QR1-502

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2218-1989/13/6/725; https://doaj.org/toc/2218-1989

    URL الوصول: https://doaj.org/article/1d5068dcf5704e19a050cb42a241e361

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  7. 7
    دورية أكاديمية
    Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review

    المؤلفون: Inês M. S. Guerra, Helena B. Ferreira, Tânia Melo, Hugo Rocha, Sónia Moreira, Luísa Diogo, Maria Rosário Domingues, Ana S. P. Moreira

    المصدر: International Journal of Molecular Sciences, Vol 23, Iss 22, p 13933 (2022)

    مصطلحات موضوعية: inborn errors of metabolism, FAOD, MCADD, LCHADD, VLCADD, CPT2D, Biology (General), QH301-705.5, Chemistry, QD1-999

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/1422-0067/23/22/13933; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

    URL الوصول: https://doaj.org/article/1dff7a799b8243419f0441c3759f37b5

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  8. 8
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

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  9. 9
    دورية أكاديمية
    Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program

    المؤلفون: Ziga I. Remec, Urh Groselj, Ana Drole Torkar, Mojca Zerjav Tansek, Vanja Cuk, Dasa Perko, Blanka Ulaga, Neza Lipovec, Marusa Debeljak, Jernej Kovac, Tadej Battelino, Barbka Repic Lampret

    المصدر: Frontiers in Genetics, Vol 12 (2021)

    مصطلحات موضوعية: VLCAD deficiency, VLCADD, neonatal screening, NBS, MS/MS, NGS, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.648493/full; https://doaj.org/toc/1664-8021

    URL الوصول: https://doaj.org/article/b16e1a4f08684063b03ea251ef6ce573

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  10. 10
    كتاب إلكتروني
    Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients

    المؤلفون: Welsink-Karssies, M. M.Aff13, Polderman, J. A. W.Aff13, Nieveen van Dijkum, E. J.Aff14, Preckel, B.Aff13, Schlack, W. S.Aff13, Visser, G.Aff15, Hollak, C. E.Aff16, Hermanides, J.Aff13

    المساهمون: Baumgartner, Matthias R., Series editorAff1, Patterson, Marc, Series editorAff2, Aff9, Rahman, Shamima, Series editorAff3, Aff10, Peters, Verena, Series editorAff4, Aff12, Morava, Eva, Editor-in-chiefAff5, Aff7, Zschocke, Johannes, Series editorAff6, Aff11, Baumgartner, Matthias, editorAff8

    المصدر: JIMD Reports, Volume 34. 34:49-54

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