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2. The diagnostic value of sural nerve biopsy in metachromatic leucodystrophy and other conditions with low leucocyte arylsulphatase A activities. Vos AJ; Joosten EM; Gabreëls-Festen AA; Gabreëls FJ; Notermans SL; Lamers KJ Neuropediatrics; 1982 Feb; 13(1):42-6. PubMed ID: 6123090 [TBL] [Abstract][Full Text] [Related]
3. Neuropathological and enzymatic studies in a case of adult form of metachromatic leukodystrophy with very late onset of clinical symptoms. Marmiroli P; Cavaletti G; Bertagnolio B; Maccarini B; Tredici G Acta Neurol (Napoli); 1990 Jun; 12(3):184-92. PubMed ID: 1976290 [TBL] [Abstract][Full Text] [Related]
4. Arylsulfatases isoenzymes in metachromatic leucodystrophy/detection of a new variant by electrophoresis improvement of quantitative assay. Dubois G; Turpin JC; Baumann N Biomedicine; 1975 Apr; 23(3):116-9. PubMed ID: 4167 [TBL] [Abstract][Full Text] [Related]
6. Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy. Clarke JT; Skomorowski MA; Chang PL Am J Med Genet; 1989 May; 33(1):10-3. PubMed ID: 2568751 [TBL] [Abstract][Full Text] [Related]
7. A variant form of metachromatic leukodystrophy without arylsulfatase deficiency. Hahn AF; Gordon BA; Hinton GG; Gilbert JJ Ann Neurol; 1982 Jul; 12(1):33-6. PubMed ID: 6126151 [TBL] [Abstract][Full Text] [Related]
8. Arylsulfatases A and B in leukocytes: a comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls. Dubois G; Turpin JC; Georges MC; Baumann N Biomedicine; 1980 Feb; 33(1):2-4. PubMed ID: 6102873 [TBL] [Abstract][Full Text] [Related]
9. Variation of arylsulphatase A: comparative studies of arylsulphatase A with synthetic and natural substrates in three families with metachromatic leucodystrophy. Christomanou H; Sandhoff Neuropadiatrie; 1978 Nov; 9(4):385-95. PubMed ID: 34127 [TBL] [Abstract][Full Text] [Related]
10. Prenatal exclusion of late infantile metachromatic leucodystrophy in a late-presenting pregnancy by assay of fetal leucocytes. Rodeck CH; Fensom AH; Benson PF; Ellis M Prenat Diagn; 1983 Jul; 3(3):257-9. PubMed ID: 6137816 [TBL] [Abstract][Full Text] [Related]
11. Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. Marcão AM; Wiest R; Schindler K; Wiesmann U; Weis J; Schroth G; Miranda MC; Sturzenegger M; Gieselmann V Arch Neurol; 2005 Feb; 62(2):309-13. PubMed ID: 15710861 [TBL] [Abstract][Full Text] [Related]
12. Metabolism of fatty acid-labeled cerebroside sulfate in cultured cells from controls and metachromatic leukodystrophy patients. Use in the prenatal identification of a false positive fetus. Kudoh T; Sattler M; Malmstrom J; Bitter MA; Wenger DA J Lab Clin Med; 1981 Nov; 98(5):704-14. PubMed ID: 6117597 [TBL] [Abstract][Full Text] [Related]
13. A variant form of metachromatic leucodystrophy in a patient suffering from another congenital degenerative neurological disease. Nordenbo AM; Tønnesen T Acta Neurol Scand; 1985 Jan; 71(1):31-6. PubMed ID: 2858148 [TBL] [Abstract][Full Text] [Related]
14. 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 Am J Med Genet; 1997 Mar; 69(3):335-40. PubMed ID: 9096767 [TBL] [Abstract][Full Text] [Related]
15. Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. Deconinck N; Messaaoui A; Ziereisen F; Kadhim H; Sznajer Y; Pelc K; Nassogne MC; Vanier MT; Dan B Eur J Paediatr Neurol; 2008 Jan; 12(1):46-50. PubMed ID: 17616409 [TBL] [Abstract][Full Text] [Related]
16. Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology. Hohenschutz C; Friedl W; Schlör KH; Waheed A; Conzelmann E; Sandhoff K; Propping P Am J Med Genet; 1988 Sep; 31(1):169-75. PubMed ID: 2906225 [TBL] [Abstract][Full Text] [Related]
17. [Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease]. Tsvetkova IV; Bakharev VA; Kazi Z; Osipova GN; Rozenfel'd EL Vopr Med Khim; 1980; 26(4):461-4. PubMed ID: 6109402 [TBL] [Abstract][Full Text] [Related]
18. Enzymic detection of metachromatic leukodystrophy patients and heterozygotes. Jordan TW; Casey B; Weston HJ N Z Med J; 1977 May; 85(587):369-72. PubMed ID: 23508 [TBL] [Abstract][Full Text] [Related]
19. [Diagnostic problems in children with metachromatic leukodystrophy]. Michałowicz R; Ignatowicz R; Potakiewicz W; Kmieć T; Onyszkiewicz J; Radelicka H Wiad Lek; 1986 Nov; 39(21):1494-8. PubMed ID: 2883775 [No Abstract] [Full Text] [Related]
20. [Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy]. Horovenko NH; Ol'khovych NV; Pichkur NO Tsitol Genet; 2002; 36(5):43-8. PubMed ID: 12442547 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]