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Volumn 153, Issue 3, 1997, Pages 193-196

Two familial cases of late onset metachromatic leukodystrophy;Deux cas familiaux de leucodystrophie metachromatique a expression tardive

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE;

EID: 0030912761     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (13)
  • 1
    • 0026410619 scopus 로고
    • The first Alzheimer disease case : A metachromatic leukodystrophy ?
    • AMADUCCI L., SORBI S., PIACENTINI S., BICK K.L. (1991). The first Alzheimer disease case : a metachromatic leukodystrophy ? Dev Neurosci, 13 : 186-187.
    • (1991) Dev Neurosci , vol.13 , pp. 186-187
    • Amaducci, L.1    Sorbi, S.2    Piacentini, S.3    Bick, K.L.4
  • 2
    • 0026410674 scopus 로고
    • Adult forms of metachromatic leukodystrophy : Clinical and biochemical approach
    • BAUMANN N., MASSON M., LEFEVRE M., HERSCHKOWITZ N., TURPIN J.C. (1991). Adult forms of metachromatic leukodystrophy : clinical and biochemical approach. Dev Neurosci, 13 : 211-215.
    • (1991) Dev Neurosci , vol.13 , pp. 211-215
    • Baumann, N.1    Masson, M.2    Lefevre, M.3    Herschkowitz, N.4    Turpin, J.C.5
  • 5
    • 0016845458 scopus 로고
    • Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy
    • DUBOIS G., TURPIN J.C., BAUMANN N. (1975). Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy. N Engl J Med, 593 : 302.
    • (1975) N Engl J Med , vol.593 , pp. 302
    • Dubois, G.1    Turpin, J.C.2    Baumann, N.3
  • 6
    • 0026353838 scopus 로고
    • Two new arylsulfatase A (ARASA) mutations in a juvenile Metachromatic Leukodystrophy
    • FLUHARTY A.L., FLUHARTY C.B., BOHNE W., VON FIGURA K., GIESELMANN V. (1991). Two new arylsulfatase A (ARASA) mutations in a juvenile Metachromatic Leukodystrophy. Am J Hum Genet, 49 : 1340-1350.
    • (1991) Am J Hum Genet , vol.49 , pp. 1340-1350
    • Fluharty, A.L.1    Fluharty, C.B.2    Bohne, W.3    Von Figura, K.4    Gieselmann, V.5
  • 7
    • 0026100536 scopus 로고
    • An assay for the rapid detection of the arylsulfatase A pseudo-eficiency allele facilitates the diagnosis and the genetic counselling for metachromatic leukodystrophy
    • GIELSELMANN V. (1991). An assay for the rapid detection of the arylsulfatase A pseudo-eficiency allele facilitates the diagnosis and the genetic counselling for metachromatic leukodystrophy. Hum Genet, 86 : 251-255.
    • (1991) Hum Genet , vol.86 , pp. 251-255
    • Gielselmann, V.1
  • 9
    • 8244224037 scopus 로고
    • Lysosomal storage diseases
    • GIESELMANN V. (1995). Lysosomal storage diseases. Biochim Biophys Acta, 49 : 402-406.
    • (1995) Biochim Biophys Acta , vol.49 , pp. 402-406
    • Gieselmann, V.1
  • 10
    • 0026065442 scopus 로고
    • Low arylsulfatase A activity and choreoathetotic syndrome in three siblings : Differentiation of pseudo-deficiency from metachromatic leukodystrophy
    • KAPPLER J., WATTS R.W.E., CONZELMANN E., GIBBS D.A., PROPPING P., GIESELMANN V. (1991). Low arylsulfatase A activity and choreoathetotic syndrome in three siblings : differentiation of pseudo-deficiency from metachromatic leukodystrophy. Eur J Pediat, 150 : 287-290.,
    • (1991) Eur J Pediat , vol.150 , pp. 287-290
    • Kappler, J.1    Watts, R.W.E.2    Conzelmann, E.3    Gibbs, D.A.4    Propping, P.5    Gieselmann, V.6
  • 13
    • 0001862032 scopus 로고
    • The myelinogenetic cycles of regional maturation of the brain
    • (Minkoswski A. ed) Blackwell ; Scientific Pub. Oxford
    • YAKOVLEV P.I., LECOURS A.R. (1967). The myelinogenetic cycles of regional maturation of the brain. (Minkoswski A. ed) Regional development of the brain in early life. Blackwell ; Scientific Pub. Oxford.
    • (1967) Regional Development of the Brain in Early Life
    • Yakovlev, P.I.1    Lecours, A.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.