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Ultrastructural alterations of endocrine glands in Tay-Sachs disease.
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Isolation and chemical characterization of metachromatic granules from a brain with metachromatic leukodystrophy.
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Cytoplasmic inclusions in human globoid cell leukodystrophy. Krabbe's disease.
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Gaucher disease in mice induced by conduritol-B-epoxide: morphologic features.
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[Amaurotic idiocy connected with metachromatic leukodystrophy: transitional form or combination? Electron microscopic and histochemical finding].
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Fetal globoid cell leukocystrophy (Krabbe disease). Pathological and biochemical examination.
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The morphologic similarities of human and canine globoid leukodystrophy. Thin section and freeze-fracture studies.
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Lactosyl ceramidosis: catabolic enzyme defect of glycosphingolipid metabolism.
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Fabry's disease: antenatal detection.
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Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease.
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Proceedings: Gaucher's disease with biclonal gammopathy.
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Deficiency of monogalactosyl diglycerid beta-B-galactosidase activity in krabbe's disease.
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Lactosylceramidosis: light and electron microscopic observations.
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Prenatal diagnosis of G M1 -gangliosidosis.
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G M1 -gangliosidosis (Type II): studies on a fibroblast cell strain.
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Molecular genetics of GM1 beta-galactosidase.
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Ultrastructure and biochemical studies of rat CNS and viscera after subcutaneous injection of chlorphentermine.
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Ultrastructure of globoid leukodystrophy (Krabbe's disease) with reference to the origin of globoid cells.
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Animal model of human disease Gm2-gangliosidoses (amaurotic idiocies) types I, II, and 3.
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Globoid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase.
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Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
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Tay-Sachs disease--the use of tears for the detection of heterozygotes.
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Krabbe's disease (globoid leukodystrophy). Electron microscopic observations.
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Elevation of serum angiotensin-converting enzyme in Gaucher's disease.
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The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.
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Peripheral neuropathy in globoid cell leukodystrophy (Krabbe's disease). Ultrastructural and histochemical findings.
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Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology.
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Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).
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N-acetylhexosaminidase activities in Tay-Sachs disease.
Lancet. 1969 Nov 29;2(7631):1195
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Ultrastructure of sulfatide storage in normal and sulfatase-deficient fibroblasts in vitro.
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Gm-gangliosidosis type I: in utero detection and fetal manifestations.
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Genetic aspects of angiokeratoma corporis diffusum.
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Lipid storage disease in a Siamese cat.
J Am Vet Med Assoc. 1970 Mar 1;156(5):616-22
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Biochemical studies in cat and human gangliosidosis.
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G5-ganglioside variant of systemic late infantile lipidosis. Generalized gangliosidosis.
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Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis).
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Fine structure of central nervous system in early infantile Gaucher's disease.
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Crystalline structures in globoid-epithelioid cells: an electron microscopic study of globoid leukodystrophy (Krabbe's disease).
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Lipid abnormalities in foam cell reticulosis of mice, an analogue of human sphingomyelin lipidosis.
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Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide.
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[Landing's disease or early infantile amaurotic idiocy with generalized gangliosidosis of the GM 1 type].
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GM2-gangliosidosis, AB variant: clinico-pathological study of a case.
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Krabbe's leukodystrophy without globoid cells.
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Infantile amurotic family idiocy. Occurrence, genetic considerations and pathophysiology in the non-Jewish infant.
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In utero diagnosis of Niemann-Pick disease.
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Lactosyl ceramidosis: normal activity for two lactosyl ceramide beta-galactosidases.
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[Fine structure of the human liver in generalized gangliosidosis GM1].
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Glucosylceramide in plasma of patients with Niemann-Pick disease.
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Elevation of serum angiotensin-converting-enzyme (ACE) level in sarcoidosis.
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Correction of accumulation of sulfate-containing compounds in cultured generalized gangliosidosis fibroblasts by beta-galactosidase.
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Tay-sachs disease and related disorders: Fractionation of brain N-acetyl-beta-hexosaminidase on DEAE-cellulose.
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Nonenzymatic conversion of human hexosaminidase A.
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Cerebral sponginess and GM3 gangliosidosis; ultrastructure and probable pathogenesis.
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Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.
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[A disorder of ganglioside metabolism with storage of ceramide lactoside, monosialo ceramide lactoside and Tay-Sachs ganglioside in the brain].
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Krabbe's leukocystrophy (globoid cell leukodystrophy). An ultrastructural study.
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ULTRASTRUCTURAL AND CHEMICAL STUDIES ON KRABBE'S DISEASE.
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Ultrastructural studies of eight cases of fetal Tay-Sachs disease.
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Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts.
Am J Hum Genet. 1976 Sep;28(5):489-95
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The ultrastructure of rat lung changes induced by an anorectic drug (chlorphentermine).
Virchows Arch B Cell Pathol. 1972;11(2):167-81
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The ultrastructure of globoid (Krabbe) leukodystrophy.
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A study on glycolipids in Fabry's isease.
Jpn J Exp Med. 1969 Feb;39(1):35-45
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Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease.
Brain Res. 1976 Oct 29;116(1):1-21
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Gaucher's disease. A morphologic study and measurements of iron metabolism.
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Hexosaminidase activities in a case of systemic GM2 gangliosidosis of late infantile type.
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Schwann cell alterations in metachromatic leukodystrophy: preliminary phase and electron microscopic observations.
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Tissue distribution of glycosphingolipids in a case of Fabry's disease.
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Enzyme replacement in Fabry's disease, an inborn error of metabolism.
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The central nervous system, liver, and spleen of FM mice. Ultrastructural, histochemical, and biochemical studies.
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J Neuropathol Exp Neurol. 1965 Apr;24:318-40
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Enzyme alterations and lipid storage in three variants of Tay-Sachs disease.
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Sub-plasmalemmal linear density: a common structure in globoid cells and mesenchymal cells.
Acta Neuropathol. 1977 Aug 31;39(3):195-200
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Animal model of human disease: GM2 gangliosidosis.
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Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease.
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Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease.
Neurology. 1970 Feb;20(2):190-204
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Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.
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Immunoglobulin abnormalities in Gaucher's disease. Report of 16 cases.
Blood. 1968 May;31(5):633-40
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Fine structure of the myenteric plexus in various lipidoses.
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Prenatal Niemann-Pick disease: biochemical and histologic examination of a 19-gestational week fetus.
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Studies in Tay-Sachs disease. IV. Membranous cytoplasmic bodies.
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A genetic profile of infantile amaurotic family idiocy; statistical evaluation of one hundred thirty-one patients.
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Clin Chim Acta. 1977 May 2;76(3):339-43
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The fine structure of the cerebroside occurring in Gaucher's disease.
Proc Natl Acad Sci U S A. 1968 Oct;61(2):484-9
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Animal model of human disease. GMi-gangliosidosis type II. Animal model: Bovine GMi-gangliosidosis, cerebrospinal lipidosis of Friesian cattle.
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[Ultrastructural alterations of the kidney in generalized gangliosidosis GM1].
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Electron microscopic studies of metachromatic leucodystrophy. IV. Liver and kidney alterations.
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Ultrastructural study of experimental globoid cells.
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Prenatal diagnosis of Tay-Sachs disease.
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In utero diagnosis of Sandhoff's disease.
Biochem Biophys Res Commun. 1973 Mar 5;51(1):20-4
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PMID: 14066623
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Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).
Am J Hum Genet. 1975 Sep;27(5):639-50
PMID: 240271
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Thin-layer chromatographic studies of human brain gangliosides.
Biochim Biophys Acta. 1966 Apr 4;116(2):279-87
PMID: 5956914