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A

Anna Tylki‐Szymańska

The Children's Memorial Health Institute

49H指数
388论文数
9.4K被引数
收录论文 127
发表时间
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Liver Disease in Transaldolase Deficiency: Molecular Basis, Genotype–Phenotype Relationships, and Transplantation Outcomes—A Systematic Review转醛醇酶缺乏症中的肝脏疾病：分子基础、基因型-表型关系及移植结局——一项系统综述
errInternational Journal of Molecular Sciences
IF4.9
err2026-09-12
err0
errOAAI
errPatryk Lipiński; Piotr Socha; Irena Jankowska; Anna Tylki-Szymańska
err分享
err收藏
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome SurveyII型黏多糖贮积症患者女性：来自亨特结局调查的见解
errJIMD Reports
IF1.8
err2025-12-02
err0
errOAAI
errBurton, Barbara K.; Amartino, Hernan; Giugliani, Roberto; Kampmann, Christoph; Raiman, Julian; Scarpa, Maurizio; Tylki-szymanska, Anna; Audi, Jennifer; Botha, Jaco; Jain, Siddarth; Muenzer, Joseph
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err收藏
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the hunter outcome survey黏多糖贮积症II型患者18年临床特征与真实世界结局：Hunter结局调查最终报告
errMolecular Genetics and Metabolism
IF3.5
err2025-11-02
err0
PREAI
errJoseph Muenzer; Jaco Botha; Hernan Amartino; Roberto Giugliani; Paul Harmatz; Christoph Kampmann; Bianca Link; Shuan-Pei Lin; David Molter; Julian Raiman; Maurizio Scarpa; Anna Tylki-Szymańska; Siddharth Jain; David A.H. Whiteman; Barbara K. Burton
err分享
err收藏
Mucopolysaccharidoses—What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview黏多糖贮积症——临床医师需要了解的知识：临床、生化及分子概述
errBiomolecules 2025, Vol. 15, Page 1448
IF0
err2025-10-14
err0
errOAAI
errPatryk Lipiński; Agnieszka Różdżyńska-Świątkowska; Karolina Wiśniewska; Joanna Rusecka; Agnieszka Ługowska; Zbigniew Żuber; Aleksandra Jezela-Stanek; Zuzanna Cyske; Lidia Gaffke; Karolina Pierzynowska; Grzegorz Węgrzyn; Anna Tylki-Szymańska
err分享
err收藏
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trialArimoclomol在尼曼-皮克病C型中的长期疗效与安全性：NPC-002 48个月开放标签扩展试验2/3期的最终结果
errMolecular Genetics and Metabolism
IF3.5
err2025-07-07
err0
PREAI
errEugen Mengel; Rosalia M. Da Riol; Mireia Del Toro; Federica Deodato; Matthias Gautschi; Stephanie Grunewald; Sabine Weller Grønborg; Paul Harmatz; Julia B. Hennermann; Bénédicte Héron; Esther M. Maier; Saikat Santra; Reena Sharma; Anna Tylki-Szymanska; Malene Cording; Louise Himmelstrup; Sven Guenther; Christine í Dali
err分享
err收藏
The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023
errDIAGNOSTICS
IF3.3
err2025-03-10
err0
errOAAI
errTulebayeva, Assel; Mukhambetova, Gulnar; Sharipova, Maira; Tylki-Szymanska, Anna
err分享
err收藏
Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate
errDIAGNOSTICS
IF3.3
err2024-09-04
err1
errOAAI
errLipinski, Patryk; Rozdzynska-Swiatkowska, Agnieszka; Lugowska, Agnieszka; Marucha, Jolanta; Drabko, Katarzyna; Tylki-Szymanska, Anna
err分享
err收藏
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-09-01
err1
errOAAI
errMuenzer, Joseph; Amartino, Hernan; Burton, Barbara K.; Scarpa, Maurizio; Tylki-Szymanska, Anna; Audi, Jennifer; Botha, Jaco; Fertek, Daniel; Merberg, David; Natarajan, Madhusudan; Whiteman, David A. H.; Giugliani, Roberto
err分享
err收藏
The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment
errDIAGNOSTICS
IF3.3
err2024-06-19
err2
errOAAI
errLipinski, Patryk; Tylki-Szymanska, Anna
err分享
err收藏
Long-term efficacy of velmanase alfa treatment in patients with alpha-mannosidosis: Pooled data from two extension studies (up to 12 years of therapy)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err1
PREAI
errGuffon, Nathalie; Borgwardt, Line; Tylki-Szymanska, Anna; Ballabeni, Andrea; Dona, Francesca; Joseph, Amer; Nienhuis, Henriet; Maugeri, Caterina; Lund, Allan
err分享
err收藏
Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland
errBIOMEDICINES
IF3.9
err2023-06-08
err4
errOAAI
errZuber, Zbigniew; Kiec-Wilk, Beata; Kaluzny, Lukasz; Wierzba, Jolanta; Tylki-Szymanska, Anna
err分享
err收藏
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-02-01
err25
errOAAI
errDeegan, Patrick B.; Goker-Alpan, Ozlem; Geberhiwot, Tarekegn; Hopkin, Robert J.; Lukina, Elena; Tylki-Szymanska, Anna; Zaher, Atef; Sensinger, Charlotte; Gaemers, Sebastiaan J. M.; Modur, Vijay; Thurberg, Beth L.; Sharma, Jyoti; Najafian, Behzad; Mauer, Michael; DasMahapatra, Pronabesh; Wilcox, William R.; Germain, Dominique P.
err分享
err收藏
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2022-09-05
err4
errOAAI
errRozdzynska-Swiatkowska, Agnieszka; Zielinska, Anna; Tylki-Szymanska, Anna
err分享
err收藏
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-07-01
err10
PREAI
errJurecka, Agnieszka; Tylki-Szymanska, Anna
err分享
err收藏
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2022-05-10
err2
errOAAI
errMagner, Martin; Almassy, Zsuzsanna; Gucev, Zoran; Kiec-Wilk, Beata; Plaiasu, Vasilica; Tylki-Szymanska, Anna; Zafeiriou, Dimitrios; Zaganas, Ioannis; Lampe, Christina
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Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2022-04-04
err4
errOAAI
errVerma, I. C.; El-Beshlawy, A.; Tylki-Szymanska, A.; Martins, A.; Duan, Y. -L.; Collin-Histed, T.; van der Linde, M. Schoneveld; Mansour, R.; Dung, V. C.; Mistry, Pramod K.
err分享
err收藏
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2022-03-24
err2
errOAAI
errTylki-Szymanska, Anna; Almassy, Zsuzsanna; Christophidou-Anastasiadou, Violetta; Avdjieva-Tzavella, Daniela; Barisic, Ingeborg; Cerkauskiene, Rimante; Cuturilo, Goran; Djiordjevic, Maja; Gucev, Zoran; Hlavata, Anna; Kiec-Wilk, Beata; Magner, Martin; Pecin, Ivan; Plaiasu, Vasilica; Samardzic, Mira; Zafeiriou, Dimitrios; Zaganas, Ioannis; Lampe, Christina
err分享
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Fifteen years of the Hunter Outcome Survey (HOS): Real-world insights into the patient population living with mucopolysaccharidosis type II (MPS II)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-02-01
err0
PREAI
errMuenzer, Joseph; Scarpa, Maurizio; Tylki-Szymanska, Anna; Amartino, Hernan; Harmatz, Paul; Lin, Shuan-Pei; Link, Bianca; Molter, David; Raiman, Julian; Whiteman, David A. H.; Botha, Jaco; Jazukeviciene, Dalia; Fertek, Daniel; Audi, Jennifer; Burton, Barbara
err分享
err收藏
Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal phase 2/3 studyarimoclomol对C型niemann-pick病患者的持续作用: 关键2/3期研究的开放标签扩展的24个月结果
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-02-01
err0
PREAI
errPatterson, Marc; Mengel, Eugen; Da Rio, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I.
err分享
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Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2021-10-23
err6
errOAAI
errJezela-Stanek, Aleksandra; Kleinotiene, Grazina; Chwialkowska, Karolina; Tylki-Szymanska, Anna
err分享
err收藏

研究方向

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合作学者
合作期刊
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