Your search returned 30 results.

Results
	1.	Gaucher's disease in Lithuania: its diagnosis and treatment. [electronic resource] by Kleinotienė, Gražina Tylki-Szymanska, Anna Czartoryska, Barbara Producer: 20120224 In: Medicina (Kaunas, Lithuania) vol. 47 Availability: No items available. Save to lists Add to cart (remove)
	2.	Serum hyaluronidase aberrations in metabolic and morphogenetic disorders. [electronic resource] by Fiszer-Szafarz, Berta Czartoryska, Barbara Tylki-Szymanska, Anna Producer: 20060620 In: Glycoconjugate journal vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	[Fabry's disease: a clinical case and literature review]. [electronic resource] by Dobrovolskiene, Rasa Utkus, Algirdas Tumiene, Birute Rainiene, Tatjana Czartoryska, Barbara Producer: 20080122 In: Medicina (Kaunas, Lithuania) vol. 43 Suppl 1 Availability: No items available. Save to lists Add to cart (remove)
	4.	Prevalence rates of mucopolysaccharidoses in Poland. [electronic resource] by Jurecka, Agnieszka Ługowska, Agnieszka Golda, Adam Czartoryska, Barbara Tylki-Szymańska, Anna Producer: 20150722 In: Journal of applied genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). [electronic resource] by Tylki-Szymańska, Anna Czartoryska, Barbara Groener, Johanna E M Ługowska, Agnieszka Producer: 20020403 In: American journal of medical genetics vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase). [electronic resource] by Tylki-Szymanska, Anna Rozdzynska, Agnieszka Jurecka, Agnieszka Marucha, Jolanta Czartoryska, Barbara Producer: 20100426 In: Molecular genetics and metabolism vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. [electronic resource] by Tylki-Szymanska, Anna Marucha, Jolanta Jurecka, Agnieszka Syczewska, Malgorzata Czartoryska, Barbara Producer: 20100721 In: Journal of inherited metabolic disease vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Gaucher disease and dysgammaglobulinemia: a report of 61 patients, including 18 with GD type III. [electronic resource] by Jurecka, Agnieszka Gregorek, Hanna Kleinotiene, Grazina Czartoryska, Barbara Tylki-Szymanska, Anna Producer: 20110608 In: Blood cells, molecules & diseases vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Substrate inhibition of lysosomal hydrolases: α-Galactosidase A and β-glucocerebrosidase. [electronic resource] by Kwapiszewski, Radoslaw Czartoryska, Barbara Ziolkowska, Karina Chudy, Michal Dybko, Artur Brzozka, Zbigniew Producer: 20111007 In: Clinical biochemistry vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis. [electronic resource] by Piotrowska, Ewa Jakóbkiewicz-Banecka, Joanna Tylki-Szymańska, Anna Czartoryska, Barbara Wegrzyn, Alicja Wegrzyn, Grzegorz Producer: 20090713 In: Acta paediatrica (Oslo, Norway : 1992) vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options. [electronic resource] by Jamrozik, Zygmunt Szczudlik, Piotr Lugowska, Agnieszka Weiß, Stefan Rolfs, Arndt Czartoryska, Barbara Kwieciński, Hubert Producer: 20130620 In: Neurologia i neurochirurgia polska vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type. [electronic resource] by Ługowska, Agnieszka Szymańska, Krystyna Kmiec, Tomasz Tarczyńska, Iwona Czartoryska, Barbara Tylki-Szymańska, Anna Jurkiewicz, Elzbieta Producer: 20051004 In: Journal of applied genetics vol. 46 Availability: No items available. Save to lists Add to cart (remove)
	13.	Gaucher disease diagnosed after bone marrow trephine biopsy - a report of two cases. [electronic resource] by Sokołowska, Bożena Skomra, Danuta Czartoryska, Barbara Tomczak, Waldemar Tylki-Szymańska, Anna Gromek, Tomasz Dmoszyńska, Anna Producer: 20111027 In: Folia histochemica et cytobiologica vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. [electronic resource] by Piotrowska, Ewa Jakóbkiewicz-Banecka, Joanna Barańska, Sylwia Tylki-Szymańska, Anna Czartoryska, Barbara Wegrzyn, Alicja Wegrzyn, Grzegorz Producer: 20060822 In: European journal of human genetics : EJHG vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. [electronic resource] by Jurecka, Agnieszka Krumina, Zita Żuber, Zbigniew Różdżyńska-Świątkowska, Agnieszka Kłoska, Anna Czartoryska, Barbara Tylki-Szymańska, Anna Producer: 20120720 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy. [electronic resource] by Tylki-Szymańska, Anna Groener, Johanna E M Kamiński, Marek Leszek Ługowska, Agnieszka Jurkiewicz, Elżbieta Czartoryska, Barbara Producer: 20120315 In: Molecular genetics and metabolism vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT). [electronic resource] by Marucha, Jolanta Tylki-Szymańska, Anna Jakóbkiewicz-Banecka, Joanna Piotrowska, Ewa Kloska, Anna Czartoryska, Barbara Węgrzyn, Grzegorz Producer: 20120209 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	[Diagnostic problems in a 17-year-old patient with gastrointestinal manifestations of Fabry disease]. [electronic resource] by Buda, Piotr Wieteska-Klimczak, Anna Ksiazyk, Janusz Smorczewska-Kiljan, Anna Gietka, Piotr Czartoryska, Barbara Tylki-Szymańska, Anna Producer: 20110830 In: Medycyna wieku rozwojowego vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	19.	[Gaucher disease--one of the possible causes of splenomegaly--case report]. [electronic resource] by Sokołowska, Bozena Skomra, Danuta Czartoryska, Barbara Tomczak, Waldemar Tylki-Szymańska, Anna Repelewska, Maryla Drop, Andrzej Gromek, Tomasz Producer: 20050421 In: Polskie Archiwum Medycyny Wewnetrznej vol. 112 Availability: No items available. Save to lists Add to cart (remove)
	20.	Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study. [electronic resource] by Wegrzyn, Grzegorz Kurlenda, Julianna Liberek, Anna Tylki-Szymanska, Anna Czartoryska, Barbara Piotrowska, Ewa Jakóbkiewicz-Banecka, Joanna Wegrzyn, Alicja Producer: 20060425 In: BMC pediatrics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 30 results.