Inherited metabolic disorders in Cyprus

Autor: Georgiou, Theodoros, Petrou, Petros P., Malekkou, Anna, Ioannou, Ioannis, Gavatha, Marina, Skordis, Nicos, Nicolaidou, Paola, Savvidou, Irini, Athanasiou, Emilia, Ourani, Sofia, Papamichael, Elena, Vogazianos, Marios, Dionysiou, Maria, Mavrikiou, Gabriella, Grafakou, Olga, Tanteles, George A., Anastasiadou, Violetta, Drousiotou, Anthi

Publikováno v: In Molecular Genetics and Metabolism Reports June 2024 39

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

Autor: Malekkou, Anna, Tomazou, Marios, Mavrikiou, Gavriella, Dionysiou, Maria, Georgiou, Theodoros, Papaevripidou, Ioannis, Alexandrou, Angelos, Sismani, Carolina, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P.

Publikováno v: BMC Medical Genomics; 3/25/2024, Vol. 17 Issue 1, p1-10, 10p

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A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.

Autor: Georgiou T; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Grafakou O; Inborn Errors of Metabolism Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus., Malekkou A; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Athanasiou E; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Ioannou I; Paediatric Neurology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus., Choleva V; Ophthalmology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus., Dionysiou M; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Mavrikiou G; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Demetriadou A; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Anastasiadou V; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus., Drousiotou A; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Petrou PP; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Nov 09; Vol. 41, pp. 101158. Date of Electronic Publication: 2024 Nov 09 (Print Publication: 2024).