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

Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges

通过MS/MS新生儿筛查挑战鉴定中链酰基辅酶A脱氢酶缺乏症

Głąb-Jabłońska, Ewa; Taybert, Joanna; Wiśniewska, Anna; Sasin-Rokita, Mariola; Ołtarzewski, Mariusz; Chełchowska, Magdalena

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme

波兰人群中生物素酶缺乏症的分子背景和疾病患病率——基于国家新生儿筛查计划的数据

Jezela-Stanek, Aleksandra; Suchoń, Lidia; Sobczyńska-Tomaszewska, Agnieszka; Czerska, Kamila; Kuśmierska, Katarzyna; Taybert, Joanna; Ołtarzewski, Mariusz; Sykut-Cegielska, Jolanta

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 - case report

MRI显示虎斑样改变的白质疾病谱:戊二酸尿症1型——病例报告

Bekiesinska-Figatowska, Monika; Duczkowski, Marek; Duczkowska, Agnieszka; Taybert, Joanna; Krzywdzinska, Amanda; Sykut-Cegielska, Jolanta

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

III型糖原贮积症:诊断、基因型、治疗、临床过程和预后

Sentner, Christiaan P; Hoogeveen, Irene J; Weinstein, David A; Santer, René; Murphy, Elaine; McKiernan, Patrick J; Steuerwald, Ulrike; Beauchamp, Nicholas J; Taybert, Joanna; Laforêt, Pascal; Petit, François M; Hubert, Aurélie; Labrune, Philippe; Smit, G Peter A; Derks, Terry G J

Clinical and molecular characteristics of two transaldolase-deficient patients

两例转醛醇酶缺乏症患者的临床和分子特征

Tylki-Szymanska, Anna; Wamelink, Mirjam M C; Stradomska, Teresa J; Salomons, Gajja S; Taybert, Joanna; Dąbrowska-Leonik, Nel; Rurarz, Małgorzata

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

尸检发现四名患有严重进行性肝衰竭的婴儿存在脱氧鸟苷激酶 (DGUOK) 基因突变,并伴有葡萄糖稳态受损和铁过载等特征。

Pronicka, Ewa; Węglewska-Jurkiewicz, Anna; Taybert, Joanna; Pronicki, Maciej; Szymańska-Dębińska, Tamara; Karkucińska-Więckowska, Agnieszka; Jakóbkiewicz-Banecka, Joanna; Kowalski, Paweł; Piekutowska-Abramczuk, Dorota; Pajdowska, Magdalena; Socha, Piotr; Sykut-Cegielska, Jolanta; Węgrzyn, Grzegorz