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Results: 1-7 |
Results: 7
PRACTICAL SUGGESTIONS IN DIAGNOSING METACHROMATIC LEUKODYSTROPHY IN PROBANDS AND IN TESTING FAMILY MEMBERS
Authors: TYLKISZYMANSKA A CZARTORYSKA B LUGOWSKA A
Citation: A. Tylkiszymanska et al., PRACTICAL SUGGESTIONS IN DIAGNOSING METACHROMATIC LEUKODYSTROPHY IN PROBANDS AND IN TESTING FAMILY MEMBERS, European neurology, 40(2), 1998, pp. 67-70
CLINICAL, BIOCHEMICAL AND HISTOLOGICAL ANALYSIS OF 7 PATIENTS WITH CHOLESTERYL ESTER STORAGE DISEASE
Authors: TYLKISZYMANSKA A RUJNER J LUGOWSKA A SAWNORKORSZYNSKA D WOZNIEWICZ B CZARNOWSKA E
Citation: A. Tylkiszymanska et al., CLINICAL, BIOCHEMICAL AND HISTOLOGICAL ANALYSIS OF 7 PATIENTS WITH CHOLESTERYL ESTER STORAGE DISEASE, Acta Paediatrica Japonica Overseas Edition, 39(6), 1997, pp. 643-646
OCCURRENCE, DISTRIBUTION, AND PHENOTYPE OF ARYLSULFATASE A MUTATIONS IN PATIENTS WITH METACHROMATIC LEUKODYSTROPHY
Authors: BERGER J LOSCHL B BERNHEIMER H LUGOWSKA A TYLKISZYMANSKA A GIESELMANN V MOLZER B
Citation: J. Berger et al., OCCURRENCE, DISTRIBUTION, AND PHENOTYPE OF ARYLSULFATASE A MUTATIONS IN PATIENTS WITH METACHROMATIC LEUKODYSTROPHY, American journal of medical genetics, 69(3), 1997, pp. 335-340
ELEVATED SULFATIDE EXCRETION IN COMPOUND HETEROZYGOTES OF METACHROMATIC LEUKODYSTROPHY AND ASA-PSEUDODEFICIENCY ALLELE
Authors: LUGOWSKA A TYLKISZYMANSKA A BERGER J MOLZER B
Citation: A. Lugowska et al., ELEVATED SULFATIDE EXCRETION IN COMPOUND HETEROZYGOTES OF METACHROMATIC LEUKODYSTROPHY AND ASA-PSEUDODEFICIENCY ALLELE, Clinical biochemistry, 30(4), 1997, pp. 325-331
NEURAMINIDASE DEFICIENCY PRESENTING AS A NEPHROSIALIDOSIS - THE FIRSTCASE DETECTED IN POLAND
Authors: TYLKISZYMANSKA A LUGOWSKA A CZARTORYSKA B
Citation: A. Tylkiszymanska et al., NEURAMINIDASE DEFICIENCY PRESENTING AS A NEPHROSIALIDOSIS - THE FIRSTCASE DETECTED IN POLAND, Acta Paediatrica Japonica Overseas Edition, 38(5), 1996, pp. 529-532
METACHROMATIC LEUKODYSTROPHY - NEW INSIGHTS INTO OCCURRENCE, DISTRIBUTION, AND PHENOTYPE RELATIONS OF ARYLSULFATASE-A MUTATIONS
Authors: BERGER J LOSCHL B BERNHEIMER H LUGOWSKA A TYLKISZYMANSKA A GIESELMANN V MOLZER B
Citation: J. Berger et al., METACHROMATIC LEUKODYSTROPHY - NEW INSIGHTS INTO OCCURRENCE, DISTRIBUTION, AND PHENOTYPE RELATIONS OF ARYLSULFATASE-A MUTATIONS, Journal of neurochemistry, 66, 1996, pp. 91-91
LATE JUVENILE METACHROMATIC LEUKODYSTROPHY (MLD) IN 3 PATIENTS WITH ASIMILAR CLINICAL COURSE AND IDENTICAL MUTATION ON ONE ALLELE
Authors: TYLKISZYMANSKA A BERGER J LOSCHL B LUGOWSKA A MOLZER B
Citation: A. Tylkiszymanska et al., LATE JUVENILE METACHROMATIC LEUKODYSTROPHY (MLD) IN 3 PATIENTS WITH ASIMILAR CLINICAL COURSE AND IDENTICAL MUTATION ON ONE ALLELE, Clinical genetics, 50(5), 1996, pp. 287-292
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