Results 131 to 140 of about 4,845,721 (162)
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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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[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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Hexosaminidase C in Tay-Sachs and sandhoff disease
Biochimica et Biophysica Acta (BBA) - Enzymology, 19751. Hexosaminidase C has been purified from human placenta. Complete separation from hexosaminidases A and B was achieved. 2. The following properties of hexosaminidase C differ from those of the A and B isozymes. Presence in the supernatant rather than the lysosomes, neutral pH optimum, higher molecular weight, lack of activity on beta-N ...
E, Penton, L, Poenaru, J C, Dreyfus
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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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Dysautonomic achalasia in two siblings with Sandhoff disease
Journal of the Neurological Sciences, 2006Two siblings in their sixth decade with chronic Type II GM2 gangliosidosis developed progressive dysphagia in addition to chronic motor neuron disease and autonomic nervous system (ANS) involvement. Esophageal achalasia was diagnosed in both patients.
PELLEGRINI M. +3 more
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[A case of juvenile Sandhoff disease].
Rinsho shinkeigaku = Clinical neurology, 1990A Japanese male with juvenile Sandhoff disease is described. The patient was a product of full-term normal pregnancy from non-consanguineous parents. Since age 10, he developed progressive dysarthria and proximal muscle atrophy and weakness. Mental deterioration and cerebellar ataxia are also noted since the age of 20.
K, Mitsuo +4 more
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Carrier detection in Sandhoff disease.
American journal of human genetics, 1978Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found two distinct cohorts.
J A, Lowden +5 more
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Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering
Neuromuscular Disorders, 2021Jorge Alonso-Perez +2 more
exaly
diagnosis of Sandhoff's disease
Biochemical and Biophysical Research Communications, 1973Robert J. Desnick +2 more
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