Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing

Autor: Suzanne Marie G. Carmona, Mary Ann R. Abacan, Maria Melanie Liberty B. Alcausin

Publikováno v: International Journal of Neonatal Screening, Vol 9, Iss 1, p 4 (2023)

Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and hypoglycemia. A high index of suspicion is needed to recognize the disorder. The case is o

Externí odkaz: https://doaj.org/article/c5f23e9e79d346d8b41a4ca0ebf604fe

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Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience

Autor: Marta Camilot, R. Nurti, Gaetano Cantalupo, Alice Maguolo, F. Lupi, Erika Rigotti, Giorgio Piacentini, Francesca Teofoli, Andrea Pasini, F. Ion Popa, Monica Vincenzi, Paola Tonin, Giulia Rodella, Grazia Molinaro, Leonardo Salviati, A. Dianin, F. Pellegrini, Natascia Campostrini, A. Bordugo, I. Monge, Sara Tucci

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100632-(2020)
Molecular Genetics and Metabolism Reports

Introduction Mitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c463ae5eb845bc19b2592d9ea19797e
http://www.sciencedirect.com/science/article/pii/S2214426920300781

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Novel PF74-like small molecules targeting the HIV-1 capsid protein: Balance of potency and metabolic stability.

Autor: Wang L; Center for Drug Design, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA.; Department of Pharmaceutical Sciences, School of Chemical Engineering, Dalian University of Technology, Dalian 116024, China., Casey MC; Department of Molecular Microbiology and Immunology, University of Missouri School of Medicine, Christopher S. Bond Life Sciences Center, Columbia, MO 65211, USA., Vernekar SKV; Center for Drug Design, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA., Sahani RL; Center for Drug Design, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA., Kirby KA; Laboratory of Biochemical Pharmacology, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA., Du H; Laboratory of Biochemical Pharmacology, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA., Zhang H; Laboratory of Biochemical Pharmacology, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA., Tedbury PR; Laboratory of Biochemical Pharmacology, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA., Xie J; Center for Drug Design, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA., Sarafianos SG; Laboratory of Biochemical Pharmacology, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA., Wang Z; Center for Drug Design, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA.

Publikováno v: Acta pharmaceutica Sinica. B [Acta Pharm Sin B] 2021 Mar; Vol. 11 (3), pp. 810-822. Date of Electronic Publication: 2020 Jul 31.