Basic findings and current developments in sphingolipidoses
Sphingolipidoses are caused by recessively inherited deficiencies of lysosomal hydrolases. The clinical backgrounds of and current biochemical and genetic approaches to the different forms and variants of gangliosidoses, trihexosylceramidosis (Fabry's disease), galactosylceramidosis (Krabbe's disease), sulfatidoses (metachromatic leukodystrophies), glucosylceramidosis (Gaucher's disease), sphingomyelinoses (Niemann-Pick disease) and ceramidosis (Farber's disease) are presented.
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblasts
Stabilization of human beta-D-N-acetylhexosaminidase A towards proteolytic inactivation by coupling it to poly(N-vinylpyrrolidone)
Adult metachromatic leukodystrophy. I. Clinical manifestation in a female aged 44 years, previously diagnosed in the preclinical state
Generalized gangliosidosis: acid beta-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia
Sphingomyelinases in human tissues. II. Absence of a specific enzyme from liver and brain of Niemann-Pick disease, type C
Sphingomyelinases in human tissues. III. Expression of Niemann-Pick disease in cultured skin fibroblasts
Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy
Comparison of the cerebroside sulphatase and the arylsulphatase activity of human sulphatase A in the absence of activators
Ceramidase and ceramide synthesis in human kidney and cerebellum. Description of a new alkaline ceramidase
A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease
The activator of cerebroside sulphatase. Purification from human liver and identification as a protein
Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts
Gene transfer to human cells: transducing phage lambda plac gene expression in GMI-gangliosidosis fibroblasts
Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver
Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles
Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease
A study of hexosaminadases in interspecific hybrids and in GM2 gangliosidosis with a discussion on their genetic control
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency
Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay
Differentiation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate
Identification of glucosyl sphingosine from Gaucher's spleen by gas chromatography-electron impact and GC-chemical ionization mass spectrometry
Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes
Chemical pathology of krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide BETA-galactosidases in brain, white blood cells and aminotic fluid cells
A disorder of ganglioside metabolism with storage of ceramide lactoside, monosialo ceramide lactoside and Tay-Sachs ganglioside in the brain
Studies on adult metachromatic leukodystrophy. 1. Clinical, morphological and histochemical observations in two cases
Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease
Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?
Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase
Enzymic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sulphatase deficiencies: arylsulphatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases
Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C
Infantile globoid cell leucodystrophy (Krabbe's disease). Some remarks on clinical, biochemical and sural nerve biopsy findings
Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)
Prenatal Niemann-Pick disease: biochemical and histologic examination of a 19-gestational week fetus
Rapid test for the detection of Tay-Sachs disease heterozygotes and homozygotes by serum hexosaminidase assay
Separation and comparison of isoenzymes of N-acetyl-beta-D-hexosaminidase of pregnancy serum by polyacrylamide gel electrofocusing
Properties of five acid hydrolases in human skin fibroblast cultures. Possible use in the diagnosis of inborn lysosomal diseases
4-Methylumbelliferyl-beta-glucosidase in cultured human fibroblasts from controls and patients with Gaucher's disease
Chemical pathology of Krabbe's disease. I. Lipid composition and fatty acid patterns of phosphoglycerides in brain
Chemical pathology of Krabbe's disease. II. Fatty acid composition of cerebrosides, sulfatides and sphingomyelins in brain
Enzyme therapy. II. Purified human alpha-galactosidase A. Stabilization to heat and protease degradation by complexing with antibody and by chemical modification
Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease
Correction of the defective sulfatide degradation in cultured fibroblasts from patients with metachromatic leucodystrophy
Juvenile GM2 gangliosidosis. Biochemical and ultrastructural studies on a new variant of Tay-Sachs disease
Peripheral neuropathy in globoid cell leukodystrophy (Krabbe's disease). Ultrastructural and histochemical findings
Studies on adult metachromatic leukodystrophy. 2. Biochemical aspects of adult cases of metachromatic leukodystrophy
Niemann-Pick disease in the adult. Lipid analyses of the body organs and the brain of autopsy- resp. biopsy material from two cases
Krabbe's globoid cell leukodystrophy: deficiency of glactocerebrosidase in serum, leukocytes, and fibroblasts
Correction of abnormal cerebroside sulfate metabolism in cultured metachromatic leukodystrophy fibroblasts
Deficient hexozaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs
Identity of beta-glucosidase, beta-xylosidase and one of the beta-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-beta-D-glycosides studies in cases of Gaucher's disease
Tay-Sachs disease with hexosaminidase deficiency. Clinical, morphological and biochemical findings in a case with visceral storage of renal globosides
GM1-ganglioside accumulation and beta-galactosidase deficiency in a case of GM1-gangliosidosis (Landing disease)
Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease
THE QUANTITATIVE DETERMINATION OF GANGLIOSIDES AND THEIR NEURAMINIC ACID-FREE DERIVATIVES IN INFANTILE, JUVENILE AND FORMS OF AMAUROTIC IDIOCY AND AN UNUSUAL LATE INFANTILE BIOCHEMICAL FORM
Genetic disorders presenting as "schizophrenia". Karl Bonhoeffer's early view of the psychoses in the light of medical genetics
A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseases
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