Results 161 to 170 of about 6,691 (192)
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Sandhoff disease in the Turkish population
Brain and Development, 1997Eighteen cases affected by Sandhoff disease were investigated by an enzymatic study of serum and leukocytes during the period 1988-1996, the clinical expression and enzymatic study were reported and discussed. An indirect minimum disease incidence was calculated in the Turkish population.
H A, Ozkara, M, Topçu, Y, Renda
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Miglustat therapy in juvenile Sandhoff disease
Journal of Inherited Metabolic Disease, 2009SummaryGM2‐gangliosidosis is a rare and heterogeneous inherited metabolic disorder caused by autosomal recessive mutations in genes encoding the lysosomal enzyme β‐hexosaminidase, resulting in the accumulation of ganglioside GM2 in various tissues, particularly the central nervous system.
C M E, Tallaksen, J E, Berg
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Infantile Sandhoff's Disease With Peripheral Neuropathy
Pediatric Neurology, 2010Sandhoff's disease is a rare autosomal-recessive disorder of sphingolipid metabolism that results from a deficiency of lysosomal enzyme beta-hexosaminidase A and B. The resultant accumulation of GM2 gangliosides within both grey matter and the myelin sheath of white matter results in essential, severe neurodegeneration.
Anuj, Jain, Ashok, Kohli, Deepak, Sachan
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An Autopsy Case of Sandhoff–s Disease
Beiträge zur Pathologie, 1974Summary An autopsy case of Sandhoff’s disease is reported. Although diagnosis of Tay-Sachs disease was made first because of the cherry red spot on the macula and a typical clinical course, enzyme assay demonstrated a total deficiency of hexosaminidase in the serum and diagnosis of Sandhoff’s disease was established.
A, Takahashi, K, Saito, Y, Koizumi
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On the molecular basis of Sandhoff's disease
Humangenetik, 1973The results of Hooghwinkel et al. (1972) concerning the existence of a third human N-acetylhexosaminidase, designated C, are confirmed. This hexosaminidase exhibits low activity and has therefore generally been overlooked until now. We suggest that the hexosaminidase A represents a heteromer consisting of B- and C-subunits. According to this assumption
H H, Ropers, U, Schwantes
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MRI in a case of Sandhoff's disease
Neuroradiology, 1996An 18-month-old girl was examined by MRI for progressive psychomotor retardation. T2-weighted images demonstrated abnormal high signal in the putamina and low signal in the thalamus (due probably to calcification). Although the cerebral cortex was markedly atrophic, there were signs of brain enlargement because of swelling of the extensively diseased ...
K, Hittmair +4 more
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First trimester prenatal diagnosis of Sandhoff's disease
Prenatal Diagnosis, 1988AbstractChorionic villus sampling was performed on two patients with a previous family history of Sandhoff's disease. Total β‐hexosaminidase (Hex) activity in case 1 was within the normal range (case 1: 6365 μmol/h/g protein; control range: 3227‐24 495/miol/h/g protein). The β‐hexosaminidase isoenzyme pattern was found to be normal.
L, Giles +4 more
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Anales espanoles de pediatria, 1985
A new case of Sandhoff disease is presented (gangliosidosis GM2 type II or variant O) with enzymatic study in serum and leukocytes from the patient, as well as in serum from the newborn's, father and mother. The clinical expression, enzymatic study and evolution are discussed comparing them with Tay-Sachs disease (gangliosidosis GM2 type I o variant B).
M, Herrera Martín +4 more
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A new case of Sandhoff disease is presented (gangliosidosis GM2 type II or variant O) with enzymatic study in serum and leukocytes from the patient, as well as in serum from the newborn's, father and mother. The clinical expression, enzymatic study and evolution are discussed comparing them with Tay-Sachs disease (gangliosidosis GM2 type I o variant B).
M, Herrera Martín +4 more
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Substrate deprivation therapy in juvenile Sandhoff disease
Journal of Inherited Metabolic Disease, 2009SummarySubstrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited experience is available in Sandhoff disease. We initiated substrate deprivation therapy in one male patient, who initially presented at the age of 3.5 years with epilepsy and regression in motor ...
S B, Wortmann +5 more
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[Lysosome disease--Sandhoff disease].
Nihon rinsho. Japanese journal of clinical medicine, 1993Lysosomal beta-hexosaminidase occurs as two major isozymes hexosaminidase A and B. The alpha subunit is encoded by the HEXA gene and the subunit by HEXB gene. Defects in the beta subunit lead to Sandhoff disease. Patients with the defect lack the activity or formation of both hexosaminidase A and B.
I, Eguchi +3 more
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