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

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG

基因型/表型关系:来自 137 例 PMM2-CDG 患者的启示

Pajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomáš; Edmondson, Andrew C; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Bérat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C; Janssen, Mirian C H; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; McWilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Õunap, Katrin

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches

PMM2-CDG 中复杂的代谢不和谐为新的治疗方法铺平了道路

Nastassja Himmelreich, Frauke Kikul, Lucie Zdrazilova, Tomáš Honzik, Andreas Hecker, Gernot Poschet, Christian Lüchtenborg, Britta Brügger, Sabine Strahl, Friederike Bürger, Jürgen G Okun, Hana Hansikova, Christian Thiel

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

神经元核内包涵体病的遗传异质性:婴儿型变异体又如何呢?

Sikora, Jakub; Jedlickova, Ivana; Pristoupilova, Anna; Stranecky, Viktor; Honzik, Tomas

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

磷酸葡萄糖变位酶1缺乏症(PGM1-CDG)国际共识指南:诊断、随访和治疗

Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; Ferreira, Carlos; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Grunewald, Stephanie; Honzik, Tomas; Jaeken, Jaak; Krasnewich, Donna; Lam, Christina; Lee, Joy; Lefeber, Dirk; Marques-da-Silva, Dorinda; Pascoal, Carlota; Quelhas, Dulce; Raymond, Kimiyo M; Rymen, Daisy; Seroczynska, Malgorzata; Serrano, Mercedes; Sykut-Cegielska, Jolanta; Thiel, Christian; Tort, Frederic; Vals, Mari-Anne; Videira, Paula; Voermans, Nicol; Witters, Peter; Morava, Eva

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

甲基丙二酸血症和丙酸血症的诊断和治疗指南:第一次修订

Forny, Patrick; Hörster, Friederike; Ballhausen, Diana; Chakrapani, Anupam; Chapman, Kimberly A; Dionisi-Vici, Carlo; Dixon, Marjorie; Grünert, Sarah C; Grunewald, Stephanie; Haliloglu, Goknur; Hochuli, Michel; Honzik, Tomas; Karall, Daniela; Martinelli, Diego; Molema, Femke; Sass, Jörn Oliver; Scholl-Bürgi, Sabine; Tal, Galit; Williams, Monique; Huemer, Martina; Baumgartner, Matthias R

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

患有 Kearns-Sayre 综合征和角膜内皮衰竭的患者是否应该进行 TCF4 三核苷酸重复基因分型,该基因通常与 Fuchs 内皮角膜营养不良相关?

Dudakova, Lubica; Skalicka, Pavlina; Davidson, Alice E; Sadan, Amanda N; Chylova, Monika; Jahnova, Helena; Anteneova, Nicole; Tesarova, Marketa; Honzik, Tomas; Liskova, Petra

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

ALG3-CDG:一例携带新型变异的患者及其遗传和眼科检查结果回顾

Farolfi, Martina; Cechova, Anna; Ondruskova, Nina; Zidkova, Jana; Kousal, Bohdan; Hansikova, Hana; Honzik, Tomas; Liskova, Petra

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation

两名同胞患有严重的ATP6AP1-CDG表型,他们携带一种新的突变,导致组织特异性ATP6AP1蛋白表达模式的差异、细胞氧化应激和肝脏铜积累。

Ondruskova, Nina; Honzik, Tomas; Vondrackova, Alzbeta; Stranecky, Viktor; Tesarova, Marketa; Zeman, Jiri; Hansikova, Hana

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

由线粒体DNA编码的复合物I亚基突变引起的多系统线粒体疾病

Danhelovska, Tereza; Kolarova, Hana; Zeman, Jiri; Hansikova, Hana; Vaneckova, Manuela; Lambert, Lukas; Kucerova-Vidrova, Vendula; Berankova, Kamila; Honzik, Tomas; Tesarova, Marketa

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

PGM1-CDG 发病机制和治疗的代谢图

Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, Sunnie Y Wong, Catarina Felgueira, Kyle M Stiers, Leila Sabbagh, Nastassja Himmelreich, Gernot Poschet, Petra Windmolders, Jan Verheijen, Peter Witters, Ruqaiah Altassan, Tomas Honzik, Tuba F Eminoglu, Phillip M James, Andrew C Edmondson, Jozef Her