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1

Immune response in breast cancer brain metastases and their microenvironment: the role of the PD-1/PD-L axis

Duchnowska, Renata, Pęksa, Rafał, Radecka, Barbara, Mandat, Tomasz, Trojanowski, Tomasz, Jarosz, Bożena, Czartoryska-Arłukowicz, Bogumiła, Olszewski, Wojciech P., Och, Waldemar, Kalinka-Warzocha, Ewa,

Journal:

Breast Cancer Research

Year:

2016

Language:

english

File:

PDF, 1.40 MB

english, 2016

2

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

Susanna Bunge, Wim J. Kleijer, Anna Tylki-Szymanska, Cordula Steglich, Michael Beck, Shunji Tomatsu, Seiji Fukuda, Ben J. H. M. Poorthuis, Barbara Czartoryska, Tadao Orii, Andreas Gal

Journal:

Year:

1997

Language:

english

File:

PDF, 202 KB

english, 1997

3

Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy)

Anna Tylki-Szymańska, Barbara Czartoryska, Johanna E.M. Groener, Agnieszka Ługowska

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 177 KB

english, 2002

4

Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human α-L-iduronidase (laronidase, Aldurazyme)

Anna Kloska, Jerzy Bohdanowicz, Grażyna Konopa, Anna Tylki-Szymńska, Joanna Jakóbkiewicz-Banecka, Barbara Czartoryska, Anna Liberek, Alicja Węgrzyn, Grzegorz Węgrzyn

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 232 KB

english, 2005

5

Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy

Grzegorz Węgrzyn, Anna Tylki-Szymańska, Anna Liberek, Ewa Piotrowska, Joanna Jakóbkiewicz-Banecka, Jolanta Marucha, Barbara Czartoryska, Alicja Węgrzyn

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 82 KB

english, 2007

6

Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT)

Jolanta Marucha, Anna Tylki-Szymańska, Joanna Jakóbkiewicz-Banecka, Ewa Piotrowska, Anna Kloska, Barbara Czartoryska, Grzegorz Węgrzyn

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 220 KB

english, 2011

7

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy

Agnieszka Jurecka, Zita Krumina, Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska, Anna Kłoska, Barbara Czartoryska, Anna Tylki-Szymańska

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 157 KB

english, 2012

8

Substrate inhibition of lysosomal hydrolases: α-Galactosidase A and β-glucocerebrosidase

Radoslaw Kwapiszewski, Barbara Czartoryska, Karina Ziolkowska, Michal Chudy, Artur Dybko, Zbigniew Brzozka

Journal:

Clinical Biochemistry

Year:

2011

Language:

english

File:

PDF, 237 KB

english, 2011

9

Serum chitotriosidase activity in gaucher patients on enzyme replacement therapy (ERT)

Barbara Czartoryska, Anna Tylki-Szymańska, Danuta Górska

Journal:

Clinical Biochemistry

Year:

1998

Language:

english

File:

PDF, 202 KB

english, 1998

10

Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease

Barbara Czartoryska, Anna Tylki-Szymańska, Agnieszka Ługowska

Journal:

Clinical Biochemistry

Year:

2000

Language:

english

File:

PDF, 95 KB

english, 2000

11

Infantile sialic acid storage disease (ISSD): Report of the first case detected in Poland

Anna Tylki-Szymanska, Barbara Czartoryska, Agnieszka Lugowska, Frans W Verheijen, Grazia M S Mancini, Dariusz Rokicki, Joanna Taybert, Elzbieta Chmielinska

Journal:

Pediatrics International

Year:

2003

Language:

english

File:

PDF, 126 KB

english, 2003

12

Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses

Marcelina Malinowska, Joanna Jakóbkiewicz-Banecka, Anna Kloska, Anna Tylki-Szymańska, Barbara Czartoryska, Ewa Piotrowska, Alicja Węgrzyn, Grzegorz Węgrzyn

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 243 KB

english, 2008

13

Efficacy of recombinant human α-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type

Anna Tylki-Szymanska, Jolanta Marucha, Agnieszka Jurecka, Malgorzata Syczewska, Barbara Czartoryska

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 126 KB

english, 2010

14

Risk factors for brain relapse in HER2-positive metastatic breast cancer patients

Renata Duchnowska, Rafał Dziadziuszko, Bogumiła Czartoryska-Arłukowicz, Barbara Radecka, Barbara Szostakiewicz, Katarzyna Sosińska-Mielcarek, Agnieszka Karpińska, Elżbieta Starosławska, Tomasz Kubiato

Journal:

Breast Cancer Research and Treatment

Year:

2009

Language:

english

File:

PDF, 219 KB

english, 2009

15

Serum hyaluronidase aberrations in metabolic and morphogenetic disorders

Berta Fiszer-Szafarz, Barbara Czartoryska, Anna Tylki-Szymanska

Journal:

Glycoconjugate Journal

Year:

2005

Language:

english

File:

PDF, 229 KB

english, 2005

16

Clinical, biochemical and molecular findings in a two-generation Morquio A family

Anna Tylki-Szymańska, Barbara Czartoryska, Susanna Bunge, Otto P van Diggelen, Wim J Kleijer, Ben JHM Poor-trims, Jan GM Huijmans, Danuta Górska

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 3.76 MB

english, 1998

17

Type III D mucopolysaccharidosis (Sanfilippo D): Clinical course and symptoms

Anna Tylki-SzymaŃSka, Barbara Czartoryska, Danuta GÓRska, Ewa Piesiewicz-Grzonkowska

Journal:

Pediatrics International

Year:

1998

Language:

english

File:

PDF, 431 KB

english, 1998

18

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

Piotrowska, Ewa, Jakóbkiewicz-Banecka, Joanna, Barańska, Sylwia, Tylki-Szymańska, Anna, Czartoryska, Barbara, Węgrzyn, Alicja, Węgrzyn, Grzegorz

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 202 KB

english, 2006

19

Natural history of Polish patients with mucopolysaccharidosis type VI

Agnieszka Jurecka, Agnieszka Rozdzynska, Jolanta Marucha, Barbara Czartoryska, Grzegorz Wegrzyn, Anna Tylki-Szymanska

Journal:

Central European Journal of Medicine

Year:

2011

Language:

english

File:

PDF, 876 KB

english, 2011

20

The prevalence and diagnosis of lysosomal storage diseases in Poland

Tylki-Szyma&#x00144, ska, Anna, Czartoryska, Barbara, &#x00141, ugowska, Agnieszka, G&#x000F3, rska, Danuta

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 73 KB

english, 2001

21

Mechanism of unbalanced growth-induced cell damage. I. A probable role for hydrolytic enzymes synthesis

Janina Malec, Waldemar M. Przybyszewski, Maria Grabarczyk, Ewa Sitarska, Barbara Czartoryska

Journal:

Chemico-Biological Interactions

Year:

1986

Language:

english

File:

PDF, 1.35 MB

english, 1986

22

Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis

Ewa Piotrowska, Joanna Jakóbkiewicz-Banecka, Anna Tylki-Szymańska, Barbara Czartoryska, Alicja Węgrzyn, Grzegorz Węgrzyn

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 141 KB

english, 2009

23

Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study

Grzegorz Węgrzyn, Julianna Kurlenda, Anna Liberek, Anna Tylki-Szymańska, Barbara Czartoryska, Ewa Piotrowska, Joanna Jakóbkiewicz-Banecka, Alicja Węgrzyn

Journal:

Year:

2005

Language:

english

File:

PDF, 225 KB

english, 2005

24

Neuraminidase deficiency presenting as a nephrosialidosis: The first case detected in Poland

ANNA TYLKI-SZYMANSKA, AGNIESZKA ŁUGOWSKA, BARBARA CZARTORYSKA

Journal:

Pediatrics International

Year:

1996

Language:

english

File:

PDF, 350 KB

english, 1996

25

Two Distinct Deletions in theIDSGene and the GeneW: A Novel Type of Mutation Associated with the Hunter Syndrome

Stanislav L. Karsten, Kristina Lagerstedt, Britt-Marie Carlberg, Wim J. Kleijer, Jacek Zaremba, Otto P. Van Diggelen, Barbara Czartoryska, Ulf Pettersson, Marie-Louise Bondeson

Journal:

Year:

1997

Language:

english

File:

PDF, 230 KB

english, 1997

26

Nouvelle manière de déterminer le poids spécifique de l'urine sur une très petite quantité

Leszek Tomaszewski, Barbara Czartoryska

Journal:

Clinica Chimica Acta

Year:

1959

File:

PDF, 319 KB

1959

27

Lipidoses detected in Poland through 1993

Barbara Czartoryska, Anna Tylki-Szymañska, Danuta Górska, Danuta Sawnor-Korszyñska

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 331 KB

english, 1994

28

Gaucher disease and dysgammaglobulinemia: A report of 61 patients, including 18 with GD type III

Agnieszka Jurecka, Hanna Gregorek, Grazina Kleinotiene, Barbara Czartoryska, Anna Tylki-Szymanska

Journal:

Blood Cells, Molecules, and Diseases

Year:

2011

Language:

english

File:

PDF, 140 KB

english, 2011

29

Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

Ewa Piotrowska, Joanna Jakóbkiewicz-Banecka, Anna Tylki-Szymanska, Anna Liberek, Agnieszka Maryniak, Marcelina Malinowska, Barbara Czartoryska, Ewa Puk, Anna Kloska, Tomasz Liberek, Sylwia Baranska, A

Journal:

Current Therapeutic Research

Year:

2008

Language:

english

File:

PDF, 1.48 MB

english, 2008

30

Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human α-l-iduronidase (laronidase)

Anna Tylki-Szymanska, Agnieszka Rozdzynska, Agnieszka Jurecka, Jolanta Marucha, Barbara Czartoryska

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 670 KB

english, 2010

31

48. Endogenous glucocerebrosidase gene expression in Gaucher disease

Deborah Elstein, Eli Ben Chetrit, Carmit Yaroslawitz, Anna Tylki-Szyma ska, Barbara Czartoryska, Gaya Chicco, Ari Zimran

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

32

Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form — No positive effects after 2-years of miglustat therapy

Anna Tylki-Szymańska, Johanna E.M. Groener, Marek Leszek Kamiński, Agnieszka Ługowska, Elżbieta Jurkiewicz, Barbara Czartoryska

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 301 KB

english, 2011

33

Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia

Agnieszka Jurecka, Ewa Piotrowska, Loreta Cimbalistiene, Nina Gusina, Agnieszka Sobczyńska, Barbara Czartoryska, Kamila Czerska, Katrin Õunap, Grzegorz Węgrzyn, Anna Tylki-Szymańska

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 368 KB

english, 2012

34

Conversion of epidermal growth factor receptor 2 and hormone receptor expression in breast cancer metastases to the brain

Renata Duchnowska, Rafał Dziadziuszko, Tomasz Trojanowski, Tomasz Mandat, Waldemar Och, Bogumiła Czartoryska-Arłukowicz, Barbara Radecka, Wojciech Olszewski, Franciszek Szubstarski, Wojciech Kozłowski

Journal:

Breast Cancer Research

Year:

2012

Language:

english

File:

PDF, 331 KB

english, 2012

35

A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options

Jamrozik, Zygmunt, Szczudlik, Piotr, Ługowska, Agnieszka, Weiß, Stefan, Rolfs, Arndt, Czartoryska, Barbara, Kwieciński, Hubert

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2013

Language:

english

File:

PDF, 73 KB

english, 2013

36

Przypadek mukopolisacharydozy typu VI (choroby Maroteaux-Lamy’ego) – charakterystyka kliniczna

Jurecka, Agnieszka, Marucha, Jolanta, Różdzyńska, Agnieszka, Czartoryska, Barbara, Tylki-Szymańska, Anna

Journal:

Pediatria Polska

Year:

2010

Language:

polish

File:

PDF, 602 KB

polish, 2010

37

Leukodystrofia globoidalna dorosłych. Pierwszy przypadek w Polsce

Jastrzębski, Karol, Czartoryska, Barbara, Klimek, Andrzej

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2013

Language:

polish

File:

PDF, 423 KB

polish, 2013

38

Polscy pacjenci z chorobą Maroteaux-Lamy’ego (mukopolisacharydozą typu VI)

Jurecka, Agnieszka, Różdżyńska, Agnieszka, Marucha, Jolanta, Czartoryska, Barbara, Tylki-Szymańska, Anna

Journal:

Pediatria Polska

Year:

2010

Language:

polish

File:

PDF, 216 KB

polish, 2010

39

Choroba Maroteaux-Lamy’ego (mukopolisacharydoza typu VI): obraz kliniczny, diagnostyka i leczenie

Jurecka, Agnieszka, Różdżyńska, Agnieszka, Marucha, Jolanta, Czartoryska, Barbara, Tylki-Szymańska, Anna

Journal:

Pediatria Polska

Year:

2010

Language:

polish

File:

PDF, 162 KB

polish, 2010

40

Prevalence rates of mucopolysaccharidoses in Poland

Jurecka, Agnieszka, Ługowska, Agnieszka, Golda, Adam, Czartoryska, Barbara, Tylki-Szymańska, Anna

Journal:

Journal of Applied Genetics

Year:

2015

Language:

english

File:

PDF, 341 KB

english, 2015

41

Prevalence of Arylsulfatase A Pseudodeficiency Allele in Metachromatic Leukodystrophy Patients from Poland

&Lstrok, ugowska, Agnieszka, Czartoryska, Barbara, Tylki-Szyma&nacute, ska, Anna, Bisko, Mariola, Zimowski, Janusz G., Berger, Johannes, Molzer, Brunhilde

Journal:

European Neurology

Year:

2000

Language:

english

File:

PDF, 242 KB

english, 2000

42

Chitotriosidase Activity in Cerebrospinal Fluid as a Marker of Inflammatory Processes in Neurological Diseases. Chitotriosidase-Aktivität in Liquor Cerebrospinalis als ein Marker des Entzündungsprozesses bei Nervenkrankheiten

Czartoryska, Barbara, Fiszer, Urszula, Lugowska, Agnieszka

Journal:

Laboratoriums Medizin

Year:

2001

Language:

english

File:

PDF, 1015 KB

english, 2001

43

Practical Suggestions in Diagnosing Metachromatic Leukodystrophy in Probands andin Testing Family Members

Tylki-Szyma&nacute, ska, Anna, Czartoryska, Barbara, &Lstrok, ugowska, Agnieszka

Journal:

European Neurology

Year:

1998

Language:

english

File:

PDF, 282 KB

english, 1998

44

Three cases of beta-galactosidase deficiency

Pronicka, Ewa, Tylki, Anna, Czartoryska, Barbara, Górska, Danuta

Journal:

Klinische Pädiatrie

Year:

1981

Language:

english

File:

PDF, 357 KB

english, 1981

45

ChemInform Abstract: SYNTH. VON 2,3-DIALKOXY-PROPYL-GLYKOSIDEN

CZARTORYSKA, BARBARA, KOSCIELAK, JERZY

Journal:

Chemischer Informationsdienst. Organische Chemie

Year:

1971

File:

PDF, 161 KB

1971

46

Gaucherâs Disease in Lithuania: Its Diagnosis and Treatment

KleinotienÄ, GraÅ¾ina, Tylki-Szymanska, Anna, Czartoryska, Barbara

Journal:

Year:

2011

Language:

english

File:

PDF, 435 KB

english, 2011