(Q48550600)

12 February 2018

title

Niemann-Pick disease type C. Study on the nature of the cerebral storage process. (English)

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12 February 2018

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4

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12 February 2018

author name string

M Elleder

1

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12 February 2018

A Jirásek

2

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12 February 2018

F Smíd

3

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12 February 2018

G T Besley

5

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12 February 2018

publication date

1 January 1985

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12 February 2018

published in

Acta Neuropathologica

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12 February 2018

volume

66

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12 February 2018

issue

4

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12 February 2018

page(s)

325-336

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12 February 2018

https://scigraph.springernature.com/pub.10.1007/bf00690966

exact match

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cites work

Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases

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The Subacute Form of Niemann-Pick Disease

21 January 2018

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Niemann-Pick disease (Crocker's group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome.

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Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C).

21 January 2018

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Niemann-Pick disease type C: case report with ultrastructural findings.

21 January 2018

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12 December 2020

Remarks on the ?OTAN? reaction

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12 December 2020

The quantitative retention of cholesterol in mouse liver prepared for electron microscopy by fixation in a digitonin-containing aldehyde solution

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12 December 2020

In situ degradation of sphingomyelin by cultured normal fibroblasts and fibroblasts from patients with Niemann-Pick disease type A and C

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12 December 2020

Separation of gluco- and galactocerebrosides by means of borate thin-layer chromatography

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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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Dystonic juvenile idiocy without amaurosis, a new syndrome. Light and electron microscopic observations of cerebrum

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Juvenile dystonic lipidosis

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12 December 2020

Niemann-Pick disease type C (subacute neurovisceral lipidosis). Problems of altered sphingomyelinase activity in the brain (author's transl)

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Studies in lipid histochemistry. XII. Histochemical detection of sphingomyelin.

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Niemann-Pick disease: lipid storage in bone marrow macrophages.

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12 December 2020

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12 December 2020

Partial Purification of Acid Sphingomyelinase from Normal and Pathological (M. Niemann-Pick Type C) Human Brain

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Liver findings in Niemann-Pic disease type C

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Neuroaxonal Dystrophy in Man: Character and Natural History

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Ceramide hexosides in niemann-pick disease brain

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Lysosomal non-lipid component of Gaucher’s cells

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12 December 2020

Two dimensional then layer chromatographic separation of polar lipids and determination of phospholipids by phosphorus analysis of spots.

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Infantile neuroaxonal dystrophy (Seitelberger's disease). A light and ultrastructural study

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

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Niemann-Pick disease type C with enhanced glycolipid storage

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Lactosyl Ceramidosis: Catabolic Enzyme Defect of Glycosphingolipid Metabolism

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New enzymatic findings in infantile neuroaxonal dystrophy.

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Unusual glycolipids in brain cortex of a visceral lipidosis (Niemann-Pick disease?).

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Studies on sphingomyelinase and beta-glucosidase activities in Niemann-Pick disease variants. Phosphodiesterase activities measured with natural and artificial substrates

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12 December 2020

Glycosphingolipid levels in an unusual neurovisceral storage disease characterized by lactosylceramide galactosyl hydrolase deficiency: lactosylceramidosis.

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Niemann-Pick disease (Crocker's type C): ultrastructural study of a case (author's transl)

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A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients.

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Chromatofocusing of skin fibroblast sphingomyelinase: Alterations in Niemann-Pick disease type C shared by GM1-gangliosidosis

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An enzymatic method for the histochemical localization of free and esterified cholesterol separately

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

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12 December 2020

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12 December 2020

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12 December 2020

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

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12 December 2020

Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin.

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12 December 2020

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12 December 2020

The pattern of mammalian brain gangliosides. II. Evaluation of the extraction procedures, postmortem changes and the effect of formalin preservation

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12 December 2020

Protein measurement with the Folin phenol reagent

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12 December 2020

Sphingomyelinase defect in niemann-pick disease, type C, fibroblasts

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12 December 2020

Neurovisceral Storage Disorder Simulating Niemann-Pick Disease – A New Form of Oligosaccharidosis?

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12 December 2020

The juvenile form of Niemann-Pick disease

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12 December 2020

Altered levels of tissue glycoproteins, gangliosides, glycosaminoglycans and lipids in Niemann-Pick's disease.

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12 December 2020

Niemann-Pick Disease. Report on a symposium held in Hlava's Institute of Pathology, Charles University, Prague 2nd-3rd September, 1982.

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12 December 2020

Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family

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12 December 2020

Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis)

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12 December 2020

Neuropathology of various types of Niemann-Pick disease

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12 December 2020

Identifiers

DOI

10.1007/BF00690966

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12 February 2018

1 reference

12 February 2018