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Title: Generalized gangliosidosis in Malta
Authors: Cachia, Emmanuel
Mifsud, J.
Vassallo, Luis A.
Vassallo Agius, Paul
Keywords: Gangliosidoses
Tay-Sachs disease
Tay-Sachs disease -- Malta -- Case studies
Issue Date: 1972
Publisher: The St. Luke`s Hospital Gazette
Citation: Cachia, E.A., Mifsud, J., Vassallo, L.A., & Vassallo Agius, P. (1972). Generalized gangliosidosis in Malta. The St. Luke`s Hospital Gazette, 7(1), 18-23.
Abstract: The purpose of this paper is to describe the clinical features of four cases of generalized gangliosidosis, two of which in siblings. In two of the cases, and in one of the siblings, B-galactosidase deficiency was demonstrated in blood and urine samples. The point that emerges from these cases is the realization that the clinical distinction between the various ganglioside lipidoses is now no 'longer possible, even in the clinically 'typical' case the resemblance to one or other of the classical Tay-Sachs or Niemann Pick is meaningless without the aid of specialized enzymatic tests. Moreover, the dramatic finding of the cherry-red spots in the retina is now no longer pathognomonic of classical Tay-Sachs disease, as was formerly widely held by clinicians. In every case the exact metabolic defect should be pin-pointed before a definite diagnosis can be made. It therefore becomes mandatory to investigate all patients in this group by special chemical techniques.
Appears in Collections:TSLHG, Volume 7, Issue 1
TSLHG, Volume 7, Issue 1

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