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Akademický článek

Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families

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

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Background: The biochemical and genetic characteristics of four very-long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) patients, clarifying their pathogenic genetic factors and evaluating the application value of genetic diagnosis in the e

Externí odkaz: https://doaj.org/article/c69c10fbbde54187b1d22a6059abe833

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Akademický článek

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives

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

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

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a fatty acid oxidation disorder characterized by the decreased ability of the enzyme very-long-chain acyl-CoA dehydrogenase to break down fatty acids with 14 to 20-long carbon chains. The

Externí odkaz: https://doaj.org/article/a52652d262d2492898244d5ed1351b69

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Akademický článek

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

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

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

Abstract Very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is a recessive disorder of fatty acid beta‐oxidation with variable phenotype. Patients may present during the neonatal period with lethal multi‐organ failure or during adulth

Externí odkaz: https://doaj.org/article/8328a7b424524de6862a3d3efb445668

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Akademický článek

Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene

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

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

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the ACADVL gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyo

Externí odkaz: https://doaj.org/article/f5347bd49a73490cb7331b28aed8a63b

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Akademický článek

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

Autor: 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

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

Abstract Early detection of congenital disorders by newborn screening (NBS) programs is essential to prevent or limit disease manifestation in affected neonates. These programs balance between the detection of the highest number of true cases and the

Externí odkaz: https://doaj.org/article/cb91c53ae02a4567a0df7f2ee355599a

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Akademický článek

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

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

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

Very long-chain acylcarnitine dehydrogenase deficiency (VLCADD) is a rare inherited metabolic disorder associated with fatty acid β-oxidation and characterized by genetic mutations in the ACADVL gene and accumulations of acylcarnitines. VLCADD, deve

Externí odkaz: https://doaj.org/article/1d5068dcf5704e19a050cb42a241e361

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Akademický článek

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

Autor: 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

Publikováno v: Frontiers in Genetics, Vol 12 (2021)

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism with a variable presentation. The aim of this study was to describe five patients with VLCADD diagnosed through the pilot study

Externí odkaz: https://doaj.org/article/b16e1a4f08684063b03ea251ef6ce573

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Akademický článek

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Akademický článek

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

Autor: Nils Janzen, Alejandro D. Hofmann, Gunnar Schmidt, Anibh M. Das, Sabine Illsinger

Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)

Abstract Background The aim of the present study was to establish a non-invasive, fast and robust enzymatic assay to confirm fatty acid oxidation defects (FAOD) in humans following informative newborn-screening or for selective screening of patients

Externí odkaz: https://doaj.org/article/02d88aae866741f2854853d1f98bcedf

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Akademický článek

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