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1دورية أكاديمية
المؤلفون: Maha Alotaibi, Amal Alqasmi, Faisal Albassam, Turki Alkahtani, Muath Alqahtany, Mohammed Alkhaldi
المصدر: Global Medical Genetics, Vol 10, Iss 04, Pp 278-281 (2023)
مصطلحات موضوعية: FBXL4, hypoglycemia, mitochondrial DNA, mitochondrial diseases, very long-chain acyl-CoA dehydrogenase deficiency, pediatric genetics, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2699-9404Test
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2دورية أكاديمية
المؤلفون: ZHOU Menglan, ZHANG Lei, YE Wenling, GAO Ruitong
المصدر: Xiehe Yixue Zazhi, Vol 14, Iss 5, Pp 1096-1100 (2023)
مصطلحات موضوعية: rhabdomyolysis, renal insufficiency, hemochromatosis, very long chain acyl-coa dehydrogenase deficiency, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1674-9081Test
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3دورية أكاديمية
المؤلفون: Maria Al Bandari, Laura Nagy, Vivian Cruz, Stacy Hewson, Alomgir Hossain, Michal Inbar-Feigenberg
المصدر: International Journal of Neonatal Screening, Vol 10, Iss 2, p 29 (2024)
مصطلحات موضوعية: very long-chain acyl-CoA dehydrogenase deficiency, residual enzyme activity, newborn screening, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4
المؤلفون: Stenlid, Rasmus, Manell, Hannes, Seth, Rikard, Cerenius, Sara Y., Chowdhury, Azazul Islam, Roa Cortes, Camilla, Nyqvist, Isabelle, Lundqvist, Thomas, Halldin, Maria, Bergsten, Peter
المصدر: Metabolites. 13(7)
مصطلحات موضوعية: glucagon, insulin, glucagon like peptide-1, very long-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, carnitine uptake deficiency, inborn errors of metabolism, pediatrics
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-508876Test
https://uu.diva-portal.org/smash/get/diva2:1787090/FULLTEXT01.pdfTest -
5دورية أكاديمية
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
العلاقة: https://doaj.org/toc/2192-8312Test
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6دورية أكاديمية
المؤلفون: Rasmus Stenlid, Hannes Manell, Rikard Seth, Sara Y. Cerenius, Azazul Chowdhury, Camilla Roa Cortés, Isabelle Nyqvist, Thomas Lundqvist, Maria Halldin, Peter Bergsten
المصدر: Metabolites; Volume 13; Issue 7; Pages: 780
مصطلحات موضوعية: glucagon, insulin, glucagon like peptide-1, very long-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, carnitine uptake deficiency, inborn errors of metabolism, pediatrics
وصف الملف: application/pdf
العلاقة: Advances in Metabolomics; https://dx.doi.org/10.3390/metabo13070780Test
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7دورية أكاديمية
المؤلفون: Visvalingam Arunath, Manoj Sanjeewa Liyanarachchi, Sundararajah Gajealan, Eresha Jasinge, Kumudu Weerasekara, Lia Abbasi Moheb
المصدر: Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-4 (2021)
مصطلحات موضوعية: Very long-chain acyl-CoA dehydrogenase deficiency, ACADVL, Hypoketonemic hypoglycemia, High anion gap metabolic acidosis, Convulsions, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1752-1947Test
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8دورية أكاديمية
المؤلفون: Go Tajima, Miyuki Tsumura, Noriko Isobe, Shotaro Hayashida, Takahisa Tateishi, Wataru Shiraishi, 但馬 剛, 林田 翔太郎, 津村 弥来, 白石 渉, 磯部 紀子, 立石 貴久
المصدر: 臨床神経学 / Rinsho Shinkeigaku. 2023, 63(10):656
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9دورية أكاديمية
المؤلفون: Abbe N Vallejo, Henry J Mroczkowski, Joshua J Michel, Michael Woolford, Harry C Blair, Patricia Griffin, Elizabeth McCracken, Stephanie J Mihalik, Miguel Reyes‐Mugica, Jerry Vockley
المصدر: Clinical & Translational Immunology, Vol 10, Iss 6, Pp n/a-n/a (2021)
مصطلحات موضوعية: fatty acid oxidation, inflammation, lymphocytes, monocytes, rhabdomyolysis, very‐long‐chain acyl‐CoA dehydrogenase deficiency, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0068Test
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10
المؤلفون: Bergsten, Rasmus Stenlid, Hannes Manell, Rikard Seth, Sara Y. Cerenius, Azazul Chowdhury, Camilla Roa Cortés, Isabelle Nyqvist, Thomas Lundqvist, Maria Halldin, Peter
المصدر: Metabolites; Volume 13; Issue 7; Pages: 780
مصطلحات موضوعية: glucagon, insulin, glucagon like peptide-1, very long-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, carnitine uptake deficiency, inborn errors of metabolism, pediatrics
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::27fd95e47fc4a3c798dbbd4b32bd826dTest