(Q39610896)

13 September 2017

1 reference

title

Progress in investigations of sphingolipidoses (English)

1 reference

21 April 2022

author name string

M. Adachi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A97916

21 April 2022

L. Schneck

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A97916

21 April 2022

B. W. Volk

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A97916

21 April 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=97916

21 April 2022

publication date

1 August 1978

1 reference

13 September 2017

7 August 1978

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=97916

full work available at URL

21 April 2022

http://link.springer.com/content/pdf/10.1007/BF00684994.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00684994/fulltext.html

21 April 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF00684994

21 April 2022

1 reference

21 April 2022

published in

Acta Neuropathologica

1 reference

13 September 2017

43

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13 September 2017

1-2

1 reference

13 September 2017

1-18

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00684994

13 September 2017

0 references

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ELECTRON MICROSCOPIC OBSERVATIONS ON METACHROMATIC LEUKODYSTROPHY.

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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).

21 January 2018

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Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

21 January 2018

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Krabbe's leukodystrophy without globoid cells

21 January 2018

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Fetal globoid cell leukocystrophy (Krabbe disease). Pathological and biochemical examination.

21 January 2018

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Lactosylceramidosis: light and electron microscopic observations.

21 January 2018

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Juvenile GM2 gangliosidosis: Partial deficiency of bexosaminidase A

21 January 2018

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Juvenile GM2-gangliosidosis: Clinical variant of Tay-Sachs disease or a new disease

21 January 2018

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Gm2-gangliosidosis with total hexosaminidase deficiency.

21 January 2018

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Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes

21 January 2018

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GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.

21 January 2018

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Factor IX deficiency in Gaucher disease. An in vitro phenomenon

21 January 2018

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12 December 2020

Fine structure of the cerebellum of children with lipidoses.

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12 December 2020

Tay‐Sachs' disease with visceral involvement and its relationship to Niemann‐Pick's disease

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12 December 2020

Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.

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12 December 2020

Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs

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12 December 2020

Comparative ultrastructural observations on peripheral nerve abnormalities in the late infantile, juvenile and late onset forms of metachromatic leukodystrophy

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12 December 2020

Familial neurovisceral lipidosis

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12 December 2020

Metachromatic leucodystrophy

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12 December 2020

Cerebral lipids in a case of systemic Gm2-gangliosidosis of a late infantile type.

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12 December 2020

Tay-Sachs Disease: Prenatal Diagnosis

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12 December 2020

Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase

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12 December 2020

Animal model of human disease: Niemann-Pick Disease type C

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12 December 2020

GM3 (hematoside) sphingolipodystrophy

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12 December 2020

Fabry's disease on the mechanism of the peripheral nerve involvement

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12 December 2020

Krabbe's disease. A light and electron microscopic study

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12 December 2020

Metachromatic leukodystrophy, an electron microscopic study.

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12 December 2020

Enzymatic Defect in Fabry's Disease

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12 December 2020

Studies on brain lipids in Tay-Sachs' disease. I. Isolation of two sialic acid-free glycolipids.

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12 December 2020

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT"

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12 December 2020

GM1-gangliosidosis (gneralized gangliosidosis). Morphology and chemical pathology

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12 December 2020

Juvenile GM1 gangliosidosis. Occurrence with absence of two beta-galactosidase components

1 reference

12 December 2020

Generalized, Norman-Landing type, GM1 gangliosidosis: study of a case diagnosed during the life of the patient

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12 December 2020

Alterations of astrocytic organelles in various lipidoses and allied diseases.

1 reference

12 December 2020

Ultrastructure of heart muscle in generalized gangliosidosis GM1

1 reference

12 December 2020

Canine globoid cell leukodystrophy. Part 1. Further ultrastructural study of the typical lesion

1 reference

12 December 2020

A histological and chemical study of three cases of diffuse cerebral sclerosis

1 reference

12 December 2020

Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase

1 reference

12 December 2020

Accumulation of a glycerolphospholipid in classical niemann-pick disease.

1 reference

12 December 2020

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

1 reference

12 December 2020

Absence of Hexosaminidase a and B in a Normal Adult

1 reference

12 December 2020

Lactosylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts

1 reference

12 December 2020

Tay-Sachs and Sandhoff diseases: an hypothesis about the primary lesion based on hexosaminidase patterns in interspecific hybrids

1 reference

12 December 2020

Ultrastructure manifestations of G M1 and G M2 gangliosidosis in fetal tissues

1 reference

12 December 2020

Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers.

1 reference

12 December 2020

EVIDENCE FOR THE GENETIC BLOCK IN METACHROMATIC LEUCODYSTROPHY (ML).

1 reference

12 December 2020

The fine structure of fetal Tay-Sachs disease.

1 reference

12 December 2020

Glycolipids Isolated from the Spleen of Gaucher's Disease

1 reference

12 December 2020

Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case

1 reference

12 December 2020

Isolation and Chemical Characterization of Metachromatic Granules from a Brain with Metachromatic Leukodystrophy*†‡

1 reference

12 December 2020

Cytoplasmic inclusions in human globoid cell leukodystrophy. Krabbe's disease

1 reference

12 December 2020

FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID

1 reference

12 December 2020

Gaucher disease in mice induced by conduritol-B-epoxide: morphologic features

1 reference

12 December 2020

Resolution of tissue sphingomyelinase isoelectric profile in multiple components is extraction-dependent: evidence for a component defect in Niemann-Pick disease type C is spurious

1 reference

12 December 2020

[Amaurotic idiocy connected with metachromatic leukodystrophy: transitional form or combination? Electron microscopic and histochemical finding]

1 reference

12 December 2020

Generalized gangliosidosis: beta-galactosidase deficiency.

1 reference

12 December 2020

The morphologic similarities of human and canine globoid leukodystrophy. Thin section and freeze-fracture studies

1 reference

12 December 2020

Lactosyl Ceramidosis: Catabolic Enzyme Defect of Glycosphingolipid Metabolism

1 reference

12 December 2020

Fabry's Disease: Antenatal Detection

1 reference

12 December 2020

Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease

1 reference

12 December 2020

Proceedings: Gaucher's disease with biclonal gammopathy

1 reference

12 December 2020

Sandhoff disease: impaired catabolism of sulfated glycosaminoglycans in cultured fibroblasts

1 reference

12 December 2020

Deficiency of monogalactosyl diglyceride β-galactosidase activity in Krabbe's disease

1 reference

12 December 2020

Investigations on the mechanism of action of glycoside-splitting enzymes. 3. Labelling of the active center of a beta-glucosidase from Aspergillus wentii with (14C) conduritol B epoxide

1 reference

12 December 2020

Ultrastructural Findings of Peripheral Nerve in a Perclinical Case of Adult Metachromatic Leukodystrophy

1 reference

12 December 2020

Prenatal diagnosis of G M1 -gangliosidosis.

1 reference

12 December 2020

G M1 -gangliosidosis (Type II): studies on a fibroblast cell strain

1 reference

12 December 2020

Molecular genetics of GM1 beta-galactosidase

1 reference

12 December 2020

GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM?

1 reference

12 December 2020

[On the behavior of brain gangliosides in 2 cases of late infantile amaurotic idiocy]

1 reference

12 December 2020

Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum.

1 reference

12 December 2020

Ultrastructure and biochemical studies of rat CNS and viscera after subcutaneous injection of chlorphentermine

1 reference

12 December 2020

Sphingomyelinases in Human Tissues. II. Absence of a Specific Enzyme from Liver and Brain of Niemann-Pick Disease, Type C

1 reference

12 December 2020

Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis.

1 reference

12 December 2020

Tay-Sachs disease. A generalized metabolic disorder

1 reference

12 December 2020

Ultrastructure of globoid leukodystrophy (Krabbe's disease) with reference to the origin of globoid cells

1 reference

12 December 2020

Prenatal diagnosis of Sandhoff's disease (GM2-gangliosidosis, type 2)

1 reference

12 December 2020

The cerebral defect in Tay-Sachs disease and Niemann-Pick disease

1 reference

12 December 2020

Metachromatic sulfatides in cerebral white matter and kidney.

1 reference

12 December 2020

Animal model of human disease Gm2-gangliosidoses (amaurotic idiocies) types I, II, and 3.

1 reference

12 December 2020

Globoid Cell Leukodystrophy: Deficiency of Lactosyl Ceramide Beta-Galactosidase

1 reference

12 December 2020

Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

1 reference

12 December 2020

Tay-Sachs Disease — The Use of Tears for the Detection of Heterozygotes

1 reference

12 December 2020

Krabbe's disease (globoid leukodystrophy). Electron microscopic observations

1 reference

12 December 2020

Elevation of Serum Angiotensin-Converting Enzyme in Gaucher's Disease

1 reference

12 December 2020

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus

1 reference

12 December 2020

Peripheral neuropathy in globoid cell leukodystrophy (Krabbe's disease). Ultrastructural and histochemical findings

1 reference

12 December 2020

Infantile (type II) Gaucher's disease: in utero diagnosis and fetal pathology

1 reference

12 December 2020

N-acetylhexosaminidase activities in Tay-Sachs disease.

1 reference

12 December 2020

Ultrastructure of sulfatide storage in normal and sulfatase-deficient fibroblasts in vitro.

1 reference

12 December 2020

Gm1-gangliosidosis type I: In utero detection and fetal manifestations

1 reference

12 December 2020

Genetic aspects of angiokeratoma corporis diffusum

1 reference

12 December 2020

Lipid storage disease in a Siamese cat

1 reference

12 December 2020

Biochemical studies in cat and human gangliosidosis

1 reference

12 December 2020

G5-ganglioside variant of systemic late infantile lipidosis. Generalized gangliosidosis

1 reference

12 December 2020

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)

1 reference

12 December 2020

Fine structure of central nervous system in early infantile Gaucher's disease.

1 reference

12 December 2020

Crystalline structures in globoid-epithelioid cells: an electron microscopic study of globoid leukodystrophy (Krabbe's disease).

1 reference

12 December 2020

Lipid abnormalities in foam cell reticulosis of mice, an analogue of human sphingomyelin lipidosis.

1 reference

12 December 2020

Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide

1 reference

12 December 2020

Landing's disease or early infantile amaurotic idiocy with generalized gangliosidosis of the GM 1 type

1 reference

12 December 2020

GM2-gangliosidosis, AB variant: clinico-pathological study of a case

1 reference

12 December 2020

STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. II. CONTROLLED THIN-LAYER CHROMATOGRAPHIC STUDIES OF GLOBOID BODY FRACTIONS IN SEVEN PATIENTS

1 reference

12 December 2020

Infantile amurotic family idiocy. Occurrence, genetic considerations and pathophysiology in the non-Jewish infant

1 reference

12 December 2020

In utero diagnosis of Niemann-Pick disease.

1 reference

12 December 2020

Lactosyl Ceramidosis: Normal Activity for Two Lactosyl Ceramide β-Galactosidases

1 reference

12 December 2020

Fine structure of the human liver in generalized gangliosidosis GM1

1 reference

12 December 2020

Glucosylceramide in plasma of patients with Niemann-Pick disease

1 reference

12 December 2020

Elevation of serum angiotension-converting-enzyme (ACE) level in sarcoidosis

1 reference

12 December 2020

Correction of accumulation of sulfate-containing compounds in cultured generalized gangliosidosis fibroblasts by beta-galactosidase

1 reference

12 December 2020

Tay-sachs disease and related disorders: Fractionation of brain N-acetyl-beta-hexosaminidase on DEAE-cellulose.

1 reference

12 December 2020

Nonenzymatic conversion of human hexosaminidase A

1 reference

12 December 2020

Cerebral Sponginess and GM3, Gangliosidosis: Ultrastructure and Probable Pathogenesis

1 reference

12 December 2020

[A disorder of ganglioside metabolism with storage of ceramide lactoside, monosialo ceramide lactoside and Tay-Sachs ganglioside in the brain]

1 reference

12 December 2020

Krabbe's leukocystrophy (globoid cell leukodystrophy). An ultrastructural study.

1 reference

12 December 2020

ULTRASTRUCTURAL AND CHEMICAL STUDIES ON KRABBE'S DISEASE

1 reference

12 December 2020

Ultrastructural studies of eight cases of fetal Tay-Sachs disease.

1 reference

12 December 2020

Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts

1 reference

12 December 2020

The ultrastructure of rat lung changes induced by an anorectic drug (chlorphentermine)

1 reference

12 December 2020

The ultrastructure of globoid (Krabbe) leukodystrophy.

1 reference

12 December 2020

A study on glycolipids in Fabry's isease.

1 reference

12 December 2020

Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease

1 reference

12 December 2020

Gaucher's disease. A morphologic study and measurements of iron metabolism

1 reference

12 December 2020

Hexosaminidase Activities in a Case of Systemic GM2 Gangliosidosis of Late Infantile Type

1 reference

12 December 2020

Schwann cell alterations in metachromatic leukodystrophy: preliminary phase and electron microscopic observations

1 reference

12 December 2020

Tissue distribution of glycosphingolipids in a case of Fabry's disease.

1 reference

12 December 2020

Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism

1 reference

12 December 2020

The central nervous system, liver, and spleen of FM mice. Ultrastructural, histochemical, and biochemical studies

1 reference

12 December 2020

ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM

1 reference

12 December 2020

Enzyme alterations and lipid storage in three variants of Tay-Sachs disease

1 reference

12 December 2020

Sub-plasmalemmal linear density: a common structure in globoid cells and mesenchymal cells

1 reference

12 December 2020

Animal model of human disease: GM2 gangliosidosis

1 reference

12 December 2020

Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease

1 reference

12 December 2020

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1 reference

12 December 2020

Immunoglobulin abnormalities in Gaucher's disease. Report of 16 cases

1 reference

12 December 2020

Fine structure of the myenteric plexus in various lipidoses

1 reference

12 December 2020

Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus

1 reference

12 December 2020

Studies in Tay-Sachs disease. IV. Membranous cytoplasmic bodies.

1 reference

12 December 2020

A genetic profile of infantile amaurotic family idiocy; statistical evaluation of one hundred thirty-one patients

1 reference

12 December 2020

Activators for sphingohydrolases and the nature of the sphingomyelinase deficiency in Niemann-Pick disease types A, B and C (author's transl)

1 reference

12 December 2020

The fine structure of the cerebroside occurring in Gaucher's disease

1 reference

12 December 2020

Animal model of human disease. GMi-gangliosidosis type II. Animal model: Bovine GMi-gangliosidosis, cerebrospinal lipidosis of Friesian cattle

1 reference

12 December 2020

[Two types of cerebroside sulfates as so-called prelipids and storage substances in leukodystrophy of type Scholz (metachromatic form of diffuse sclerosis).]

1 reference

12 December 2020

Ultrastructural alterations of the kidney in generalized gangliosidosis GM1

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12 December 2020

Electron microscopic studies of metachromatic leucodystrophy. IV. Liver and kidney alterations

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12 December 2020

Ultrastructural study of experimental globoid cells.

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12 December 2020

Prenatal diagnosis of Tay-Sachs disease.

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12 December 2020

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

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12 December 2020

STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. 3. SIGNIFICANCE OF EXPERIMENTALLY-PRODUCED GLOBOID-LIKE ELEMENTS IN RAT WHITE MATTER AND SPLEEN

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12 December 2020

In utero diagnosis of Sandhoff's disease.

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12 December 2020

The liver in lipidosis. An electron miscroscopic and histochemical study

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12 December 2020

CHROMATOGRAPHlC SEPARATION OF HUMAN BRAIN GANGLIOSIDES*

1 reference

12 December 2020

Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease)

1 reference

12 December 2020

Thin-layer chromatographic studies of human brain gangliosides.

1 reference

12 December 2020

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Glycolipids in cultured fetal Tay-Sachs disease cerebellar cells

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Identifiers

DOI

10.1007/BF00684994

1 reference

13 September 2017

1 reference