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

Health and well-being of maturing adults with classic galactosemia

经典型半乳糖血症成年患者的健康和福祉

Garrett, Olivia S; Druss, Jared J; Vos, E Naomi; Fu, Yu-Ting Debbie; Lucia, Stephanie; Greenstein, Patricia E; Bauer, Anna; Sykut-Cegielska, Jolanta; Stepien, Karolina M; Arbuckle, Cameron; Grafakou, Olga; Meyer, Uta; Vanhoutvin, Nele; Pané, Adriana; Bosch, Annet M; Rubio-Gozalbo, Estela; Berry, Gerard T; Fridovich-Keil, Judith L

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

YME1L1 功能障碍与 3-甲基戊二酸尿症相关

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

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

经典型半乳糖血症患者的脑功能:半乳糖血症网络(GalNet)成员综述

Panis, Bianca; Vos, E Naomi; Barić, Ivo; Bosch, Annet M; Brouwers, Martijn C G J; Burlina, Alberto; Cassiman, David; Coman, David J; Couce, María L; Das, Anibh M; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D K; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; Õunap, Katrin; Pané, Adriana; Paci, Sabrina; Parini, Rossella; Rivera, Isabel A; Scholl-Bürgi, Sabine; Schwartz, Ida V D; Sdogou, Triantafyllia; Shakerdi, Loai A; Skouma, Anastasia; Stepien, Karolina M; Treacy, Eileen P; Waisbren, Susan; Berry, Gerard T; Rubio-Gozalbo, M Estela

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

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

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

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

Inherited metabolic disorders in Cyprus

塞浦路斯的遗传性代谢紊乱

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

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

通过外显子组测序偶然发现,GAA 变异体与酶活性降低相关,但缺乏庞贝氏症相关症状。

Malekkou, Anna; Theodosiou, Athina; Alexandrou, Angelos; Papaevripidou, Ioannis; Sismani, Carolina; Jacobs, Edwin H; Ruijter, George J G; Anastasiadou, Violetta; Ourani, Sofia; Athanasiou, Emilia; Drousiotou, Anthi; Grafakou, Olga; Petrou, Petros P

Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes

希腊一组患有不同类型癫痫综合征的儿童和青少年癫痫的遗传病因

Zaganas, Ioannis; Vorgia, Pelagia; Spilioti, Martha; Mathioudakis, Lambros; Raissaki, Maria; Ilia, Stavroula; Giorgi, Melpomeni; Skoula, Irene; Chinitrakis, Georgios; Michaelidou, Kleita; Paraskevoulakos, Evangelos; Grafakou, Olga; Kariniotaki, Chariklia; Psyllou, Thekla; Zafeiris, Spiros; Tzardi, Maria; Briassoulis, George; Dinopoulos, Argirios; Mitsias, Panayiotis; Evangeliou, Athanasios