Czartoryska B - Search Results

1

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

Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poorthuis BJ, Czartoryska B, Orii T, Gal A. Bunge S, et al. Among authors: czartoryska b. Hum Mutat. 1997;10(3):223-32. doi: 10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J. Hum Mutat. 1997. PMID: 9298823

2

Postnatal and prenatal diagnosis of Maroteaux-Lamy syndrome.

Rogoyski A, Czartoryska B, Kleijer WJ, Niermeijer MF, Tronowska TD, Gorska D, Polatynska-Krzyspiak B, Zaremba J. Rogoyski A, et al. Among authors: czartoryska b. Acta Anthropogenet. 1985;9(1-3):109-16. Acta Anthropogenet. 1985. PMID: 3939668

3

Hyaluronidase in human somatic tissues and urine: polymorphism and the activity in diseases.

Fiszer-Szafarz B, Vannier P, Lityńska A, Zou L, Czartoryska B, Tylki-Szymańska A. Fiszer-Szafarz B, et al. Among authors: czartoryska b. Acta Biochim Pol. 1995;42(1):31-3. Acta Biochim Pol. 1995. PMID: 7653157 Free article.

4

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

5

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

6

Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome.

Karsten SL, Lagerstedt K, Carlberg BM, Kleijer WJ, Zaremba J, Van Diggelen OP, Czartoryska B, Pettersson U, Bondeson ML. Karsten SL, et al. Among authors: czartoryska b. Genomics. 1997 Jul 15;43(2):123-9. doi: 10.1006/geno.1997.4811. Genomics. 1997. PMID: 9244428

7

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

8

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

9

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

10

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

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