Results 101 to 110 of about 628 (144)

Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency

Journal of the Neurological Sciences, 1996
A 33-year-old male patient was admitted to our hospital because of progressive gait disturbance and involuntary movement of the neck. He showed choroideremia, distal motor neuropathy, and leukoencephalopathy on T2-weighted brain magnetic resonance imaging (MRI).
W, Matsuyama, M, Kuriyama, M, Nakagawa, H, Kanazawa, S, Takenaga, S, Ijichi, M, Osame   +6 more
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Characterization of human arylsulfatase a glycans

International Journal of Biochemistry, 1994
Despite numerous studies on arylsulfatase A, the structure of the glycans present in each of its two subunits has not been determined. This is important because the carbohydrate component of human arylsulfatase A synthesized in tumor tissues and transformed cells has been shown to undergo apparent changes.
P, Laidler, A, Litynska, M, Galka-Walczak, B, Wojczyk   +3 more
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Specific determination of arylsulfatase A activity

Experientia, 1986
Arylsulfatase activities in biological materials are too low to be detected by the methods available hitherto. A sensitive and specific assay method for arylsulfatase A (AS-A) has been developed in the present study. Ascorbate-2-sulfate is known to be a specific natural substrate of AS-A; the ascorbic acid liberated by the action of AS-A was ...
H, Inoue, Y, Seyama, S, Yamashita
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Studies on the charge isomers of arylsulfatase A

Biochemical Medicine, 1985
Human liver arylsulfatase A was resolved into six fractions by narrow pH range preparative isoelectric focusing. Analytical isoelectric focusing revealed that most enzyme fractions were composed of two adjacent charge isomers. Nevertheless, there was considerable enrichment of charge species which allowed a comparative study of selected properties ...
T A, Sarafian, K K, Tsay, W E, Jackson, A L, Fluharty, H, Kihara   +4 more
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Pseudodeficiency of arylsulfatase A: a counseling dilemma

Clinical Genetics, 1987
Arylsulfatase A (ASA) deficiency is the cause of early and late onset metachromatic leukodystrophy (MLD). Low ASA levels are detected in some healthy individuals who are pseudodefi‐cient (PD). PD individuals can be distinguished, because PD fibroblasts hydrolyze14C‐sulfatide at similar rates to normal fibroblasts.
S, Baldinger, M E, Pierpont, D A, Wenger
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A new electrophoretic variant of arylsulfatase A

Biochemical Medicine and Metabolic Biology, 1988
Previous work in this laboratory has identified electrophoretic variant forms of arylsulfatase A in leucocyte plus platelets. During a study to replicate and extend these findings, a new seven-band variant of arylsulfatase A has been identified. Purified platelets gave a clearer, more distinct electrophoretic banding pattern than the leucocyte and ...
P, Manowitz, L V, Fine, R, Nora, S, Chokroverty, P E, Nathan, J M, Fazzaro   +5 more
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Pseudodeficiencies of Arylsulfatase A and Galactocerebrosidase Activities

Developmental Neuroscience, 1991
Pseudodeficiency is defined as the in vitro measurement of low activity (usually under 15% of the normal mean for controls) of an enzyme in a healthy person. They may be hard to distinguish from presymptomatic people who will present with adult-onset clinical disease.
D A, Wenger, E, Louie
openaire   +2 more sources

Arylsulfatase A Pseudodeficiency - Incidence in Poland

European Journal of Human Genetics, 1996
Arylsulfatase A (ASA) pseudodeficiency (Pd) was defined as the in vitro measurement of low enzyme activity in a healthy person. A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy (MLD).
B, Czartoryska, J G, Zimowski, M, Bisko, D, Górska   +3 more
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A simple chromogenic assay for arylsulfatase A

Clinica Chimica Acta, 1987
Arylsulfatase A hydrolyzes the artificial chromogenic substrate 4-nitrocatechol-sulfate at 0 degree C at a rate of 24% of that at 37 degrees C whereas arylsulfatase B is almost inactive at 0 degree C. Based on this observation, a simple assay was developed which permits the accurate determination of low residual arylsulfatase A activities in cultured ...
M, Lee-Vaupel, E, Conzelmann
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Arylsulfatase A Variants in Patients with Alcoholism

Alcoholism: Clinical and Experimental Research, 1984
Leukocytes from 200 mentally ill patients and 100 normal controls were analyzed for eiectrophoretic variants of arylsulfatase A. Four different variant forms were found in 15 subjects. There is a relatively high occurrence of the arylsulfatase A variants in patients with alcoholism. Twenty‐one per cent (12/56) of patients with alcoholism have a variant
A R, Hulyalkar, R, Nora, P, Manowitz
openaire   +2 more sources