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2. 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]
3. 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]
4. Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy. Hreidarsson SJ; Thomas GH; Kihara H; Fluharty AL; Kolodny EH; Moser HW; Reynolds LW Pediatr Res; 1983 Sep; 17(9):701-4. PubMed ID: 6137805 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies. Clark JR; Miller RG; Vidgoff JM Neurology; 1979 Mar; 29(3):346-3. PubMed ID: 36575 [TBL] [Abstract][Full Text] [Related]
7. The AB-variant of metachromatic leukodystrophy (postulated activator protein deficiency). Light and electron microscopic findings in a sural nerve biopsy. Hahn AF; Gordon BA; Gilbert JJ; Hinton GG Acta Neuropathol; 1981; 55(4):281-7. PubMed ID: 6120612 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation. Coulter-Mackie MB; Applegarth DA; Toone JR; Gagnier L; Anzarut AR; Hendson G Can J Neurol Sci; 2002 May; 29(2):159-63. PubMed ID: 12035837 [TBL] [Abstract][Full Text] [Related]
10. Arylsulfatases A and B in metachromatic leukodystrophy and Maroteaux-Lamy syndrome: studies with 4-methylumelliferyl sulfate. Kolodny EH; Mumford RA Adv Exp Med Biol; 1976; 68():239-51. PubMed ID: 7105 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test. Kihara H; Ho CK; Fluharty AL; Tsay KK; Hartlage PL Pediatr Res; 1980 Mar; 14(3):224-7. PubMed ID: 6104322 [TBL] [Abstract][Full Text] [Related]
17. [Adult metachromatic leukodystrophy]. Wang L Zhonghua Shen Jing Jing Shen Ke Za Zhi; 1990 Dec; 23(6):354-5, 385. PubMed ID: 2098247 [TBL] [Abstract][Full Text] [Related]
18. Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity. Molzer B; Sundt-Heller R; Kainz-Korschinsky M; Zobel M Am J Med Genet; 1992 Nov; 44(4):523-6. PubMed ID: 1359786 [TBL] [Abstract][Full Text] [Related]
19. Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts. Kihara H; Tsay KK; Fluharty AL Hum Genet; 1984; 66(4):300-1. PubMed ID: 6144627 [TBL] [Abstract][Full Text] [Related]
20. Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays. Tempesta MC; Levade T; Salvayre R Clin Chim Acta; 1991 Oct; 202(3):149-65. PubMed ID: 1687673 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]