Czartoryska B - Search Results

1

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

Wegrzyn G, Tylki-Szymańska A, Liberek A, Piotrowska E, Jakóbkiewicz-Banecka J, Marucha J, Czartoryska B, Wegrzyn A. Wegrzyn G, et al. Among authors: czartoryska b. Am J Med Genet A. 2007 Aug 15;143A(16):1925-7. doi: 10.1002/ajmg.a.31831. Am J Med Genet A. 2007. PMID: 17603800 No abstract available.

2

Lipidoses detected in Poland through 1993.

Czartoryska B, Tylki-Szymañska A, Górska D, Sawnor-Korszyñska D. Czartoryska B, et al. Pediatr Neurol. 1994 Nov;11(4):295-7. doi: 10.1016/0887-8994(94)90004-3. Pediatr Neurol. 1994. PMID: 7702688

3

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

Tylki-Szymanska A, Lugowska A, Czartoryska B. Tylki-Szymanska A, et al. Among authors: czartoryska b. Acta Paediatr Jpn. 1996 Oct;38(5):529-32. doi: 10.1111/j.1442-200x.1996.tb03539.x. Acta Paediatr Jpn. 1996. PMID: 8942016

4

Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.

Tylki-Szymańska A, Millat G, Maire I, Czartoryska B. Tylki-Szymańska A, et al. Among authors: czartoryska b. Eur J Hum Genet. 1996;4(6):334-7. doi: 10.1159/000472228. Eur J Hum Genet. 1996. PMID: 9043866

5

Lipidoses in Poland.

Czartoryska B, Górska D, Tylki-Szymańska A, Sawnor-Korszyńska D, Zaremba J. Czartoryska B, et al. Neurol Neurochir Pol. 1996;30 Suppl 2:13-6. Neurol Neurochir Pol. 1996. PMID: 9100238 Review. No abstract available.

6

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

Tylki-Szymańska A, Czartoryska B, Bunge S, van Diggelen OP, Kleijer WJ, Poorthuis BJ, Huijmans JG, Górska D. Tylki-Szymańska A, et al. Among authors: czartoryska b. Clin Genet. 1998 May;53(5):369-74. doi: 10.1111/j.1399-0004.1998.tb02747.x. Clin Genet. 1998. PMID: 9660054

7

Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members.

Tylki-Szymańska AT, Czartoryska B, Lugowska A. Tylki-Szymańska AT, et al. Among authors: czartoryska b. Eur Neurol. 1998 Aug;40(2):67-70. doi: 10.1159/000007960. Eur Neurol. 1998. PMID: 9693234

8

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

Czartoryska B, Tylki-Szymańska A, Górska D. Czartoryska B, et al. Clin Biochem. 1998 Jul;31(5):417-20. doi: 10.1016/s0009-9120(98)00030-7. Clin Biochem. 1998. PMID: 9721443

9

Type III D mucopolysaccharidosis (Sanfilippo D): clinical course and symptoms.

Tylki-Szymańska A, Czartoryska B, Górska D, Piesiewicz-Grzonkowska E. Tylki-Szymańska A, et al. Among authors: czartoryska b. Acta Paediatr Jpn. 1998 Oct;40(5):492-4. doi: 10.1111/j.1442-200x.1998.tb01977.x. Acta Paediatr Jpn. 1998. PMID: 9821715

10

Enzyme replacement therapy in type III Gaucher disease.

Tylki-Szymańska A, Czartoryska B. Tylki-Szymańska A, et al. Among authors: czartoryska b. J Inherit Metab Dis. 1999 Apr;22(2):203-4. doi: 10.1023/a:1005495229655. J Inherit Metab Dis. 1999. PMID: 10234625 No abstract available.

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