ISSN:
1432-1459
Schlagwort(e):
Adrenoleukodystrophy
;
Beta-galactosidase deficiency
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Summary A patient with adrenoleukodystrophy and his mother, a carrier, showed an elevated ratio of very long-chain fatty acids to long-chain fatty acids and decreased beta-galactosidase activity. Other lysosomal enzyme activities were normal except for the borderline level of arylsulfatase-A activity. However, the father and other patients with variant forms of adrenoleukodystrophy showed normal beta-galactosidase and other lysosomal enzyme activities.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00314164
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