i(3)so3-galactosylceramide and Retinitis-Pigmentosa

i(3)so3-galactosylceramide has been researched along with Retinitis-Pigmentosa* in 2 studies

Other Studies

2 other study(ies) available for i(3)so3-galactosylceramide and Retinitis-Pigmentosa

Article	Year
A variant form of metachromatic leucodystrophy in a patient suffering from another congenital degenerative neurological disease. Acta neurologica Scandinavica, 1985, Volume: 71, Issue:1 A woman aged 21 with a variant form of metachromatic leucodystrophy (MLD) combined with another form of leucodystrophy is described. The clinical symptoms were retinitis pigmentosa and progressive neurological deficits such as mental retardation, dystonia, pyramidal tract involvement and peripheral neuropathy. The biochemical findings were marked deficiency of arylsulfatase-A and cerebroside-sulfatase in cultured fibroblasts and excretion of sulfatides in the urine. Sulfatide-loading of cultured fibroblasts showed almost normal uptake and degradation of sulfatides. The patient's sister suffers from a clinically similar neurological disease, but normal activity of arylsulfatase-A was found in her leucocytes. A severe oral-facial dystonia in the patient was successfully controlled by l-dopa. Topics: Adult; Central Nervous System Diseases; Cerebroside-Sulfatase; Female; Fibroblasts; Humans; Intellectual Disability; Leukocytes; Leukodystrophy, Metachromatic; Nerve Degeneration; Neuromuscular Diseases; Retinitis Pigmentosa; Sulfoglycosphingolipids	1985
Brain sphingolipids in I cell disease (mucolipidosis II). Journal of neurochemistry, 1974, Volume: 22, Issue:4 Topics: Abnormalities, Multiple; Ceramides; Cerebrosides; Child, Preschool; Chromatography, Gas; Chromatography, Thin Layer; Cytoplasmic Granules; Fibroblasts; Galactose; Gangliosides; Glucose; Humans; Lactose; Lipidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Neuraminic Acids; Retinitis Pigmentosa; Sphingolipids; Sphingomyelins; Sulfoglycosphingolipids; Syndrome	1974

Article

Year

A variant form of metachromatic leucodystrophy in a patient suffering from another congenital degenerative neurological disease.

Acta neurologica Scandinavica, 1985, Volume: 71, Issue:1

A woman aged 21 with a variant form of metachromatic leucodystrophy (MLD) combined with another form of leucodystrophy is described. The clinical symptoms were retinitis pigmentosa and progressive neurological deficits such as mental retardation, dystonia, pyramidal tract involvement and peripheral neuropathy. The biochemical findings were marked deficiency of arylsulfatase-A and cerebroside-sulfatase in cultured fibroblasts and excretion of sulfatides in the urine. Sulfatide-loading of cultured fibroblasts showed almost normal uptake and degradation of sulfatides. The patient's sister suffers from a clinically similar neurological disease, but normal activity of arylsulfatase-A was found in her leucocytes. A severe oral-facial dystonia in the patient was successfully controlled by l-dopa.

Topics: Adult; Central Nervous System Diseases; Cerebroside-Sulfatase; Female; Fibroblasts; Humans; Intellectual Disability; Leukocytes; Leukodystrophy, Metachromatic; Nerve Degeneration; Neuromuscular Diseases; Retinitis Pigmentosa; Sulfoglycosphingolipids

1985

Brain sphingolipids in I cell disease (mucolipidosis II).

Journal of neurochemistry, 1974, Volume: 22, Issue:4

Topics: Abnormalities, Multiple; Ceramides; Cerebrosides; Child, Preschool; Chromatography, Gas; Chromatography, Thin Layer; Cytoplasmic Granules; Fibroblasts; Galactose; Gangliosides; Glucose; Humans; Lactose; Lipidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Neuraminic Acids; Retinitis Pigmentosa; Sphingolipids; Sphingomyelins; Sulfoglycosphingolipids; Syndrome

1974