Tylki-Szymanska A - Search Results

1

Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.

Dubiela P, Szymanska-Rozek P, Hasinski P, Lipinski P, Kleinotiene G, Giersz D, Tylki-Szymanska A. Dubiela P, et al. Among authors: tylki szymanska a. Biomolecules. 2024 Jul 12;14(7):842. doi: 10.3390/biom14070842. Biomolecules. 2024. PMID: 39062556 Free PMC article.

2

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.

3

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E. Jurecka A, et al. Mol Genet Metab. 2008 Aug;94(4):435-442. doi: 10.1016/j.ymgme.2008.04.013. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524658

4

[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.

5

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.

Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B. Lugowska A, et al. Mol Genet Metab. 2005 Nov;86(3):353-9. doi: 10.1016/j.ymgme.2005.07.010. Epub 2005 Sep 2. Mol Genet Metab. 2005. PMID: 16140556

6

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.

Jurecka A, Jurkiewicz E, Tylki-Szymanska A. Jurecka A, et al. Eur J Pediatr. 2012 Jan;171(1):131-8. doi: 10.1007/s00431-011-1503-9. Epub 2011 May 31. Eur J Pediatr. 2012. PMID: 21625931 Review.

7

[Treatment of patients with lysosomal storage diseases].

Tylki-Szymańska A. Tylki-Szymańska A. Pol Tyg Lek. 1992 May 18-25;47(20-21):450-2. Pol Tyg Lek. 1992. PMID: 1437765 Polish.

8

Carpal tunnel syndrome in children with mucopolysaccharidoses: needs for surgical tendons and median nerve release.

Pronicka E, Tylki-Szymanska A, Kwast O, Chmielik J, Maciejko D, Cedro A. Pronicka E, et al. J Ment Defic Res. 1988 Feb;32 ( Pt 1):79-82. doi: 10.1111/j.1365-2788.1988.tb01391.x. J Ment Defic Res. 1988. PMID: 3129563

9

Amniotic tissue transplantation as a trial of treatment in some lysosomal storage diseases.

Tylki-Szymańska A, Maciejko D, Kidawa M, Jabłońska-Budaj U, Czartoryska B. Tylki-Szymańska A, et al. J Inherit Metab Dis. 1985;8(3):101-4. doi: 10.1007/BF01819289. J Inherit Metab Dis. 1985. PMID: 3939584

10

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.

Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki-Szymanska A, Yee J, Weinreb N. Cox TM, et al. J Inherit Metab Dis. 2008 Jun;31(3):319-36. doi: 10.1007/s10545-008-0779-z. Epub 2008 May 23. J Inherit Metab Dis. 2008. PMID: 18509745 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

276 results

Search Page

Filters