المؤلفون: Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Peng

المصدر: Heliyon, Vol 10, Iss 1, Pp e23671- (2024)

مصطلحات موضوعية: Newborn screening, Fatty acid oxidation disorders, Primary carnitine deficiency, Multiple acyl-CoA dehydrogenase deficiency, Tandem mass spectrometry, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023108796Test; https://doaj.org/toc/2405-8440Test

الوصول الحر: https://doaj.org/article/6b76955ec05042ccbb7b77f3fb495f0bTest

المؤلفون: Everard, Emilie, laeremans Hilde, Boemer François, Marie, Sandrine, Vincent, Marie-Françoise, Dewulf, Joseph P., debray, François-Guillaume, De Laet Corinne, Nassogne, Marie-Cécile

المساهمون: UCL - (SLuc) Service de neurologie pédiatrique, UCL - (SLuc) Institut des maladies rares, UCL - (SLuc) Service de biochimie médicale

المصدر: Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric, (2024)

مصطلحات موضوعية: Keywords: Mitochondrial fatty acid oxidation disorders MCAD deficiency VLCAD deficiency LCHAD deficiency MTP deficiency CPT 2 deficiency

العلاقة: boreal:285107; http://hdl.handle.net/2078.1/285107Test

الإتاحة: https://doi.org/10.1016/j.ejpn.2024.02.003Test
http://hdl.handle.net/2078.1/285107Test

المؤلفون: Neves, Joana Maria Limpo de Faria Pita das

مصطلحات موضوعية: Deficiência da desidrogenasse dos ácidos gordos de cadeia média, Doença hereditária do metabolismo, Doença da beta-oxidação dos ácidos gordos, Hipoglicémia hipocetótica, Rastreio neonatal, Medium-chain acyl-coA dehydrogenase deficiency, Inherited metabolic disease, Fatty acid oxidation disorders, Hypoketotic hypoglycemia, Newborn screening

الإتاحة: https://hdl.handle.net/10316/111352Test

المؤلفون: Faïza Meiouet, Sâad El Kabbaj, Rachid Abilkassem, François Boemer

المصدر: Pediatric Reports, Vol 15, Iss 1, Pp 227-236 (2023)

مصطلحات موضوعية: tandem mass spectrometry, inborn errors of metabolism, amino acid disorders, fatty acid oxidation disorders, organic acidemias, Morocco, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2036-7503/15/1/18Test; https://doaj.org/toc/2036-7503Test

الوصول الحر: https://doaj.org/article/1eb406927040478a9ea7e904f6237fd2Test

المؤلفون: Isaac Bernhardt, Emma Glamuzina, Leah K. Dowsett, Dianne Webster, Detlef Knoll, Kevin Carpenter, Michael J. Bennett, Michelle Maeda, Callum Wilson

المصدر: JIMD Reports, Vol 63, Iss 4, Pp 322-329 (2022)

مصطلحات موضوعية: carnitine palmitoyltransferase type 1 deficiency, CPT1A, fatty acid oxidation disorders, newborn screening, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/9afb0b30591a4d8489775cb88d9e9f56Test

المؤلفون: Meiouet, Faïza, El Kabbaj, Sâad, Abilkassem, Rachid, Boemer, François

المصدر: Pediatric Reports, 15 (1), 227 - 236 (2023-03-10)

مصطلحات موضوعية: Morocco, amino acid disorders, fatty acid oxidation disorders, inborn errors of metabolism, organic acidemias, tandem mass spectrometry, Pediatrics, Human health sciences, Sciences de la santé humaine, Pédiatrie

العلاقة: https://www.mdpi.com/2036-7503/15/1/18/pdfTest; urn:issn:2036-749X; urn:issn:2036-7503

الوصول الحر: https://orbi.uliege.be/handle/2268/308677Test

المؤلفون: Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, Russell S. Kirby, Mathew J. Edick, Susan A. Berry, Georgianne L. Arnold

المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100884- (2022)

مصطلحات موضوعية: Inborn errors of metabolism, Genetics, Pediatrics, Fatty acid oxidation disorders, LCHAD, TFP, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426922000441Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/4c7f815751ce417692557d32da80b414Test

المؤلفون: Vockley, J, Charrow, J, Ganesh, J, Eswara, M, Diaz, GA, McCracken, E, Conway, R, Enns, GM, Starr, J, Wang, R, Abdenur, JE, Sanchez-de-Toledo, J, Marsden, DL

المصدر: Molecular Genetics and Metabolism. 119(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Heart Disease, Pediatric, Cardiovascular, Rare Diseases, Clinical Research, Adolescent, Cardiomyopathies, Child, Child, Preschool, Clinical Trials as Topic, Energy Metabolism, Fatty Acids, Female, Humans, Infant, Infant, Newborn, Lipid Metabolism, Inborn Errors, Male, Oxidation-Reduction, Triglycerides, Cardiomyopathy, Fatty acid oxidation disorders, Metabolic disorders, Triheptanoin, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2ws5k5ndTest

المؤلفون: Jing, Jiayu, Zhang, Cui, Du, Sihao, Tan, Xiaohui, Yue, Xia, Qiao, Dongfang

المصدر: Cardiovasc Pathol ; ISSN:1879-1336 ; Volume:70

مصطلحات موضوعية: Carnitine-acylcarnitine translocase deficiency, Fatty acid oxidation disorders, Lipid accumulation, Neonatal death, Post-mortem diagnosis, Prenatal screening, Trio-whole genome sequencing

العلاقة: https://doi.org/10.1016/j.carpath.2024.107630Test; https://pubmed.ncbi.nlm.nih.gov/38490313Test

الإتاحة: https://doi.org/10.1016/j.carpath.2024.107630Test
https://pubmed.ncbi.nlm.nih.gov/38490313Test

المؤلفون: Vargas, Carmen Regla^1,2,3,4 crvargas@hcpa.edu.br, Ribas, Graziela Schmitt¹, da Silva, Janine Machado^1,2, Sitta, Angela¹, Deon, Marion¹, de Moura Coelho, Daniella¹, Wajner, Moacir^1,3

المصدر: Archives of Medical Research. Apr2018, Vol. 49 Issue 3, p205-212. 8p.

مصطلحات موضوعية: *FATTY acid oxidation disorders, *METABOLIC disorders, *LIQUID chromatography, *TANDEM mass spectrometry, *INBORN errors of metabolism, *PATIENTS