Results 121 to 130 of about 60,786 (163)
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Rapid degradation of steroid sulfatase in multiple sulfatase deficiency
Biochemical and Biophysical Research Communications, 1986Pulse labeling followed by SDS-PAGE electrophoresis of immunoprecipitated [35S]methionine-labeled steroid sulfatase (STS) gave a single band of molecular weight 65,000 daltons. After a chase period of 18 hours the material appeared as molecular weight approximately 64,000.
A L, Horwitz +3 more
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Early manifestations of multiple sulfatase deficiency
The Journal of Pediatrics, 1984We describe two boys, presenting by 1 year of age, with developmental delay from birth, mildly coarse facial features, and hepatomegaly. These clinical features were most suggestive of a mucopolysaccharidosis, particularly MPS II. Biochemical studies, including sulfate incorporation in fibroblasts and lysosomal enzyme analyses in fibroblasts ...
R D, Burk +6 more
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1995
Multiple sulfatase deficiency (MSD) is a very rare disorder with an autosomal recessive mode of inheritance.The disease combines the features of metachromatic leukodystrophy and mucopolysaccharidosis. It is also called mucosulfatidosis, Austin’s variant or variant O.
Marjo S. van der Knaap, Jacob Valk
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Multiple sulfatase deficiency (MSD) is a very rare disorder with an autosomal recessive mode of inheritance.The disease combines the features of metachromatic leukodystrophy and mucopolysaccharidosis. It is also called mucosulfatidosis, Austin’s variant or variant O.
Marjo S. van der Knaap, Jacob Valk
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Saudi Variant of Multiple Sulfatase Deficiency
Journal of Child Neurology, 1992We describe eight patients with multiple sulfatase deficiency (MSD, or Austin's disease) who differ phenotypically from classic neonatal-, childhood-, or juvenile-onset MSD. The age of onset was in childhood. The patients presented with somatic and facial features of mucopolysaccharidosis reminiscent of Maroteaux-Lamy and Morquio syndromes.
A, al Aqeel +6 more
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Metachromatic Leukodystrophy (Sulfatase A Deficiency) and Multiple Sulfatase Deficiency
1975Metachromatic leukodystrophy was first described in adults. Alzheimer (1910) gave a brief abstract of a case which he characterized as a white matter disease with destruction of myelin and abundant, brightly metachromatic deposits in glia cells. Witte (1921) reported similar findings and recognized the accumulation of metachromatic granules in neuronal
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Enhanced Breakdown of Arylsulfatase A in Multiple Sulfatase Deficiency
European Journal of Biochemistry, 1982Multiple sulfatase deficiency (mucosulfatidosis) is a lysosomal storage disorder characterized by the decrease in activities of all known sulfatases. To measure the apparent rate of synthesis and the half‐life of arylsulfatase A in multiple sulfatase deficiency, fibroblasts from patients with the disease and from controls were subjected to pulse‐chase ...
A, Waheed, A, Hasilik, K, von Figura
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Ichthyosis: The Skin Manifestation of Multiple Sulfatase Deficiency
Pediatric Dermatology, 1997Abstract: Juvenile sulfatidosis (Austin type) or multiple suifatase deficiency is an extremely rare autosomai recessive disorder affecting the activity of many suifatases: arylsuifatase A, several mucopolysaccharide sutfatases, and steroid sulfatase.
E, Castaño Suárez +5 more
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Difficulty in Recognizing Multiple Sulfatase Deficiency in an Infant
Pediatrics, 2006We describe the difficulty in recognizing multiple sulfatase deficiency (MSD; Online Mendelian Inheritance in Man [OMIM] database No. 272200) in an infant. MSD is a rare autosomal recessive disorder that affects the posttranslational activation of various sulfatase enzymes. It is both biochemically and clinically variable. Currently, there are 12 known
Roberto P, Santos, Joe J, Hoo
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1989
Multiple sulfatase deficiency (MSD) is a very severe neuropediatric disorder, closely resembling the late-infantile-onset type of metachromatic leukodystrophy (MLS) [1, 6, 11]. The disease was separated from classical MLD on biochemical grounds. In 1965, Austin et al.
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Multiple sulfatase deficiency (MSD) is a very severe neuropediatric disorder, closely resembling the late-infantile-onset type of metachromatic leukodystrophy (MLS) [1, 6, 11]. The disease was separated from classical MLD on biochemical grounds. In 1965, Austin et al.
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Synthesis and Stability of Steroid Sulfatase in Fibroblasts from Multiple Sulfatase Deficiency
Biological Chemistry Hoppe-Seyler, 1988Multiple sulfatase deficiency is a lysosomal storage disorder, which can be divided into group I with severe and group II with moderate deficiencies in sulfatases. Antibodies raised against steroid sulfatase purified from human placenta were used to follow the biosynthesis and stability of this enzyme in multiple sulfatase-deficiency fibroblasts ...
J T, Conary, A, Hasilik, K, von Figura
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