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

Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant

苯丙酮尿症患者中SLC7A5结构变异体的蛋白酶体活性和疾病结局

Bik-Multanowski, Miroslaw; Bobis-Wozowicz, Sylwia; Piejko, Marcin; Madetko-Talowska, Anna; Szewczyk, Katarzyna; Kopaczka-Koziol, Kinga; Lasota, Slawomir; Jankowska, Urszula; Skupien-Rabian, Bozena; Korycinska-Chaaban, Dorota; Krzywdzinska-Rogowska, Amanda; Steinlein, Ortrud K

Management precautions for risk of obesity are necessary among infants with PKU carrying the rs113883650 variant of the LAT1 gene: A cross-sectional study

一项横断面研究表明,携带LAT1基因rs113883650变异的苯丙酮尿症患儿需要采取肥胖风险管理预防措施。

Bik-Multanowski, Miroslaw; Didycz, Bozena; Bik-Multanowska, Kinga

Genetic Profiling in Children With Acute Lymphoblastic Leukemia Referred for Allogeneic Hematopoietic Stem Cell Transplantation

对接受异基因造血干细胞移植的急性淋巴细胞白血病患儿进行基因谱分析

Kwiecinska, Kinga; Strojny, Wojciech; Bik-Multanowski, Miroslaw; Michal Korostynski; Piechota, Marcin; Balwierz, Walentyna; Szymon Skoczen

The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU

SLC7A5 (LAT1) 基因的 rs113883650 变异可能改变苯丙酮尿症患者的脑内苯丙氨酸含量

Bik-Multanowski, Miroslaw; Bik-Multanowska, Kinga; Betka, Iwona; Madetko-Talowska, Anna

Case report of endoprosthesis -Y implantation in severe respiratory failure in the MPSII patient; comparison with literature data

一例MPSII型患者严重呼吸衰竭行Y型内假体植入的病例报告;与文献数据的比较

Gocyk, Wojciech; Warmus, Janusz; Olechnowicz, Henryk; Bik-Multanowski, Miroslaw; Pawlinski, Lukasz; Kiec-Wilk, Beata

Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria

携带 SLC7A5 (LAT1) 基因 rs113883650/rs2287120 单倍型会增加苯丙酮尿症患儿肥胖的风险

Bik-Multanowski, Miroslaw; Madetko-Talowska, Anna; Betka, Iwona; Swieczka, Elzbieta; Didycz, Bozena; Orchel-Szastak, Karolina; Bik-Multanowska, Kinga; Starostecka, Ewa; Jaglowska, Joanna; Mozrzymas, Renata; Zolkowska, Joanna; Chyz, Katarzyna; Korycinska-Chaaban, Dorota

Can untreated PKU patients escape from intellectual disability? A systematic review

未经治疗的苯丙酮尿症患者能否避免智力障碍?一项系统性综述

van Vliet, Danique; van Wegberg, Annemiek M J; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Federico, Antonio; Feillet, François; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L; Hollak, Carla E M; Jørgensen, Jens V; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan Ö; Nardecchia, Francesca; Õunap, Katrin; Powell, Kimberly K; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljkovic, Maja; Trefz, Fritz K; Usurelu, Natalia; Wilson, Callum; van Karnebeek, Clara D; Hanley, William B; van Spronsen, Francjan J

Late effects in survivors of childhood acute lymphoblastic leukemia in the context of selected gene polymorphisms

儿童急性淋巴细胞白血病幸存者远期效应与特定基因多态性的关系

Kwiecinska, Kinga; Strojny, Wojciech; Pietrys, Danuta; Bik-Multanowski, Miroslaw; Siedlar, Maciej; Balwierz, Walentyna; Skoczen, Szymon

Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria

苯丙酮尿症患者的血液苯丙氨酸不稳定与焦虑密切相关。

Didycz, Bozena; Bik-Multanowski, Miroslaw

The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria

使用d2和Benton测试评估苯丙酮尿症青少年注意力缺陷和视觉记忆

Didycz, Bozena; Nitecka, Magdalena; Bik-Multanowski, Miroslaw