-
1
-
-
0001381312
-
Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 6th ed. New York: McGraw-Hill
-
Kolodny E.H. Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic basis of inherited disease. 6th ed. Vol. 2. New York: McGraw-Hill, 1989: 1721-50.
-
(1989)
Metabolic basis of inherited disease
, vol.2
, pp. 1721-1750
-
-
Kolodny, E.H.1
-
2
-
-
0015128027
-
The incidence and genetics of metachromatic leucodystrophy in northern Sweden
-
Gustavson K.H., Hagberg B. The incidence and genetics of metachromatic leucodystrophy in northern Sweden. Acta Pediatr Scand 1971; 60:585-590
-
(1971)
Acta Pediatr Scand
, vol.60
, pp. 585-590
-
-
Gustavson, K.H.1
Hagberg, B.2
-
3
-
-
0024500625
-
Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications
-
Hohenschutz C., Eich P., Friedl W., Waheed A., Conzelmann E., Propping P. Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications. Hum Genet 1989; 82:45-48
-
(1989)
Hum Genet
, vol.82
, pp. 45-48
-
-
Hohenschutz, C.1
Eich, P.2
Friedl, W.3
Waheed, A.4
Conzelmann, E.5
Propping, P.6
-
4
-
-
0021320194
-
Arylsulfatase A in pseudodeficiency
-
Herz B., Bach G. Arylsulfatase A in pseudodeficiency. Hum Genet 1984; 66:147-150
-
(1984)
Hum Genet
, vol.66
, pp. 147-150
-
-
Herz, B.1
Bach, G.2
-
5
-
-
85023444896
-
A rapid assay for the detection of the arylsulfatase A pseudodeficiency allele facilitates the genetic counselling and the diagnosis of metachromatic leukodystrophy
-
(in press).
-
Gieselmann V. A rapid assay for the detection of the arylsulfatase A pseudodeficiency allele facilitates the genetic counselling and the diagnosis of metachromatic leukodystrophy. Hum Genet (in press).
-
Hum Genet
-
-
Gieselmann, V.1
-
6
-
-
0024409026
-
Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal and a N-glycosylation site
-
Gieselmann V., Polten A., Kreysing J., von Figura K. Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal and a N-glycosylation site. Proc Natl Acad Sci U S A 1989; 86:9436-9440
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 9436-9440
-
-
Gieselmann, V.1
Polten, A.2
Kreysing, J.3
von Figura, K.4
-
7
-
-
84934485247
-
Sequencing by the dideoxy method
-
In: Ausubel FM, Brent R, Kingston RE, et al. eds. New York: Wiley,4.13–7.4.28.
-
Tabor S. Sequencing by the dideoxy method. In: Ausubel FM, Brent R, Kingston RE, et al. eds. Current protocols in molecular biology. New York: Wiley, 1987: 7.4.13–7.4.28.
-
(1987)
Current protocols in molecular biology
, pp. 7
-
-
Tabor, S.1
-
8
-
-
0000704627
-
Transfection of DNA into eukaryotic cells
-
In: Ausubel FM, Brent R, Kingston RE, et al. eds. New York: Wiley,1.1–9.1.3.
-
Kingston R.E. Transfection of DNA into eukaryotic cells. In: Ausubel FM, Brent R, Kingston RE, et al. eds. Current protocols in molecular biology. New York: Wiley, 1987: 9.1.1–9.1.3.
-
(1987)
Current protocols in molecular biology
, pp. 9
-
-
Kingston, R.E.1
-
9
-
-
0023017804
-
Heterogeneity in late-onset metachromatic leukodystrophy: effect of inhibitors of cysteine proteinases
-
von Figura K., Steckel F., Conary J., Hasilik A., Shaw E. Heterogeneity in late-onset metachromatic leukodystrophy: effect of inhibitors of cysteine proteinases. Am J Hum Genet 1986; 39:371-382
-
(1986)
Am J Hum Genet
, vol.39
, pp. 371-382
-
-
von Figura, K.1
Steckel, F.2
Conary, J.3
Hasilik, A.4
Shaw, E.5
-
10
-
-
0023751677
-
Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology
-
Hohenschutz C., Friedl W., Senlör K.H., et al. Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology. Am J Med Genet 1988; 31:169-175
-
(1988)
Am J Med Genet
, vol.31
, pp. 169-175
-
-
Hohenschutz, C.1
Friedl, W.2
Senlör, K.H.3
-
12
-
-
0024541384
-
Cloning and expression of human arylsulfatase A
-
Stein C., Gieselmann V., Kreysing J., et al. Cloning and expression of human arylsulfatase A. J Biol Chem 1989; 264:1252-1259
-
(1989)
J Biol Chem
, vol.264
, pp. 1252-1259
-
-
Stein, C.1
Gieselmann, V.2
Kreysing, J.3
-
13
-
-
0021054557
-
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases
-
von Figura K., Steckel F., Hasilik A. Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. Proc Natl Acad Sci U S A 1983; 80:6066-6070
-
(1983)
Proc Natl Acad Sci U S A
, vol.80
, pp. 6066-6070
-
-
von Figura, K.1
Steckel, F.2
Hasilik, A.3
-
14
-
-
85023480634
-
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency
-
(in press).
-
Kappler J., Leinekugel P., Conzelmann E., et al. Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency. Hum Genet (in press).
-
Hum Genet
-
-
Kappler, J.1
Leinekugel, P.2
Conzelmann, E.3
-
15
-
-
0025022733
-
Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation
-
Krivit W., Shapiro E., Kennedy W., et al. Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. N Engl J Med 1990; 322:28-32.
-
(1990)
N Engl J Med
, vol.322
, pp. 28-32
-
-
Krivit, W.1
Shapiro, E.2
Kennedy, W.3
-
16
-
-
0024395473
-
Marked clinical differences between two sibs affected with juvenile metachromatic leukodystrophy
-
Clarke J.T.R., Skomorowski A.M., Chang P.L. Marked clinical differences between two sibs affected with juvenile metachromatic leukodystrophy. Am J Med Genet 1989; 33:10-13
-
(1989)
Am J Med Genet
, vol.33
, pp. 10-13
-
-
Clarke, J.T.R.1
Skomorowski, A.M.2
Chang, P.L.3
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