Results 171 to 180 of about 6,625 (209)

Sandhoff disease in a golden retriever dog

Journal of Inherited Metabolic Disease, 2002
AbstractA golden retriever dog is described with total hexosaminid ase deficiency and raised GM2‐ganglioside in CSF. The animal represents a model for human Sandhoff disease.
O, Yamato, N, Matsuki, H, Satoh, M, Inaba, K, Ono, M, Yamasaki, Y, Maede   +6 more
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Cardiac involvement in infantile Sandhoff disease

Journal of Paediatrics and Child Health, 2002
Abstract: An 18‐month‐old boy with enzyme assay‐confirmed infantile Sandhoff disease (MIM 268800) is reported. Besides the classical neurological features, this patient exhibited severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse.
P, Venugopalan, S N, Joshi
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A case of combined Farber and Sandhoff disease

European Journal of Pediatrics, 1989
We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots.
C, Fusch, R, Huenges, H W, Moser, A C, Sewell, W, Roggendorf, B, Kustermann-Kuhn, A, Poulos, W F, Carey, K, Harzer   +8 more
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[Sandhoff disease].

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, F, Montejo Iglesias, T, Pampols, A, Franquet, P, Cuadrado Bello   +4 more
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Dysautonomic achalasia in two siblings with Sandhoff disease

Journal of the Neurological Sciences, 2006
Two 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., ZICARI E., DOTTI M., FEDERICO A.   +3 more
openaire   +4 more sources

[Lysosome disease--Sandhoff disease].

Nihon rinsho. Japanese journal of clinical medicine, 1993
Lysosomal 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, N, Wakamatsu, R, Nakano, S, Tsuji   +3 more
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Substrate deprivation therapy in juvenile Sandhoff disease

Journal of Inherited Metabolic Disease, 2009
SummarySubstrate 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, D J, Lefeber, G, Dekomien, M A A P, Willemsen, R A, Wevers, E, Morava   +5 more
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First trimester prenatal diagnosis of Sandhoff's disease

Prenatal Diagnosis, 1988
AbstractChorionic 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, A, Cooper, B, Fowler, I B, Sardharwalla, P, Donnai   +4 more
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Hexosaminidase C in Tay-Sachs and sandhoff disease

Biochimica et Biophysica Acta (BBA) - Enzymology, 1975
1. 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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Splicing mutation causes infantile Sandhoff disease

American Journal of Medical Genetics, 1998
no abstract ...
GOMEZ, Maria Macarena, Perusi, C, MOTTES, Monica, PIGNATTI, Pierfranco, RIZZUTO, Nicolo', Gatti, R., SALVIATI, Alessandro   +6 more
openaire   +3 more sources