日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

YME1L1 功能障碍与 3-甲基戊二酸尿症相关

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70029
Demetriadou Anthi, Grafakou Olga, Georgiou Theodoros, Burska Daniela, Malekkou Anna, Krizova Jana, Paramera Efstathia, Mavrikiou Gavriella, Dionysiou Maria, Theodosiou Athina, Sismani Carolina, Anastasiadou Violetta, Ioannou Ioannis, Papakonstantinou Evangelos, Hansikova Hana, Drousiotou Anthi, Petrou Petros P
发表日期：2025
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A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

一种新型的大片段DPYD基因内缺失导致二氢嘧啶脱氢酶缺乏症：病例报告

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-024-01846-2
Malekkou, Anna; Tomazou, Marios; Mavrikiou, Gavriella; Dionysiou, Maria; Georgiou, Theodoros; Papaevripidou, Ioannis; Alexandrou, Angelos; Sismani, Carolina; Drousiotou, Anthi; Grafakou, Olga; Petrou, Petros P
DPYD
发表日期：2024
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A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics

一组患有CblC缺陷的塞浦路斯患者病例：临床、生化和分子特征

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101158
Georgiou, Theodoros; Grafakou, Olga; Malekkou, Anna; Athanasiou, Emilia; Ioannou, Ioannis; Choleva, Vivi; Dionysiou, Maria; Mavrikiou, Gabriella; Demetriadou, Anthi; Anastasiadou, Violetta; Drousiotou, Anthi; Petrou, Petros P
发表日期：2024
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Inherited metabolic disorders in Cyprus

塞浦路斯的遗传性代谢紊乱

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101083
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
代谢
发表日期：2024
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