Lugowska A - Search Results

1

Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele.

Lugowska A, Tylki-Szymańska A, Berger J, Molzer B. Lugowska A, et al. Clin Biochem. 1997 Jun;30(4):325-31. doi: 10.1016/s0009-9120(97)00033-7. Clin Biochem. 1997. PMID: 9209791 Clinical Trial.

2

[Thin-layer chromatography of urine oligosaccharides in diagnosis of some lysosomal storage disorders].

Lugowska A, Tylki-Szymańska A, Sawnor-Korszyńska D. Lugowska A, et al. Pediatr Pol. 1995 Oct;70(10):847-55. Pediatr Pol. 1995. PMID: 8649932 Polish.

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: lugowska a. 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

Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.

Tylki-Szymanska A, Berger J, Löschl B, Lugowska A, Molzer B. Tylki-Szymanska A, et al. Among authors: lugowska a. Clin Genet. 1996 Nov;50(5):287-92. doi: 10.1111/j.1399-0004.1996.tb02376.x. Clin Genet. 1996. PMID: 9007312

5

[Deficiency of arylsulfatase A activity as a basis of metachromatic leucodystrophy].

Lugowska A, Tylki-Szymańska A. Lugowska A, et al. Postepy Biochem. 1996;42(3):284-9. Postepy Biochem. 1996. PMID: 9036380 Review. Polish. No abstract available.

6

Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.

Berger J, Löschl B, Bernheimer H, Lugowska A, Tylki-Szymanska A, Gieselmann V, Molzer B. Berger J, et al. Among authors: lugowska a. Am J Med Genet. 1997 Mar 31;69(3):335-40. Am J Med Genet. 1997. PMID: 9096767

7

Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease.

Tylki-Szymańska A, Rujner J, Lugowska A, Sawnor-Korszyńska D, Woźniewicz B, Czarnowska E. Tylki-Szymańska A, et al. Among authors: lugowska a. Acta Paediatr Jpn. 1997 Dec;39(6):643-6. doi: 10.1111/j.1442-200x.1997.tb03660.x. Acta Paediatr Jpn. 1997. PMID: 9447750

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: lugowska a. Eur Neurol. 1998 Aug;40(2):67-70. doi: 10.1159/000007960. Eur Neurol. 1998. PMID: 9693234

9

Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease.

Czartoryska B, Tylki-Szymańska A, Lugowska A. Czartoryska B, et al. Among authors: lugowska a. Clin Biochem. 2000 Mar;33(2):147-9. doi: 10.1016/s0009-9120(99)00098-3. Clin Biochem. 2000. PMID: 10751594 No abstract available.

10

Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.

Lugowska A, Czartoryska B, Tylki-Szymańska A, Bisko M, Zimowski JG, Berger J, Molzer B. Lugowska A, et al. Eur Neurol. 2000;44(2):104-7. doi: 10.1159/000008205. Eur Neurol. 2000. PMID: 10965162

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