Tylki-Szymańska A - Search Results

1

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment.

Lipiński P, Tylki-Szymańska A. Lipiński P, et al. Among authors: tylki szymanska a. Diagnostics (Basel). 2024 Jun 19;14(12):1299. doi: 10.3390/diagnostics14121299. Diagnostics (Basel). 2024. PMID: 38928715 Free PMC article. Review.

2

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

Popowska E, Rathmann M, Tylki-Szymanska A, Bunge S, Steglich C, Schwinger E, Gal A. Popowska E, et al. Hum Mutat. 1995;5(1):97-100. doi: 10.1002/humu.1380050114. Hum Mutat. 1995. PMID: 7728156 No abstract available.

3

[Examination of very long chain fatty acids in diagnosis of x-linked adrenoleukodystrophy].

Stradomska TJ, Tylki-Szymańska A. Stradomska TJ, et al. Pediatr Pol. 1996 Mar;71(3):197-201. Pediatr Pol. 1996. PMID: 8966090 Polish.

4

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A. Rathmann M, et al. Am J Hum Genet. 1996 Dec;59(6):1202-9. Am J Hum Genet. 1996. PMID: 8940265 Free PMC article.

5

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825

6

[A case of Wolman's disease in a two-month old boy].

Ryzko J, Celińska-Cedro D, Karpińska D, Tylki-Szymańska A. Ryzko J, et al. Wiad Lek. 1993 Feb;46(3-4):147-50. Wiad Lek. 1993. PMID: 8266698 Polish. No abstract available.

7

Effect of glycerol trioleate oil milk formula administration on very long chain fatty acid levels and clinical course in a patient with Zellweger syndrome.

Tylki-Szymańska A, Stradomska TJ. Tylki-Szymańska A, et al. Eur J Pediatr. 1995 Oct;154(10):867. doi: 10.1007/BF01959804. Eur J Pediatr. 1995. PMID: 8529694 No abstract available.

8

[Principles of diagnosis and the clinical course of 8 cases of Gaucher's disease (beta-glucocerebrosidase deficiency)].

Tylki-Szymańska A, Maciejko D, Rujner J, Goryluk B, Pronicka E. Tylki-Szymańska A, et al. Pediatr Pol. 1987 Jan;62(1):9-18. Pediatr Pol. 1987. PMID: 3615053 Polish. No abstract available.

9

[A newly discovered metabolic diseases due to defects in the pentose pathway].

Tylki-Szymańska A, Stradomska TJ. Tylki-Szymańska A, et al. Postepy Biochem. 2011;57(2):168-71. Postepy Biochem. 2011. PMID: 21913417 Review. Polish.

10

[Annexins in Niemann-Pick type C disease].

Buszewska ME, Strzelecka-Kiliszek A, Tylki-Szymańska A, Bandorowicz-Pikuła J. Buszewska ME, et al. Postepy Biochem. 2007;53(2):169-73. Postepy Biochem. 2007. PMID: 17969878 Review. Polish.

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