(Q69552026)

English

Niemann-Pick disease

scientific article published on 01 September 1989

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2682573%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

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Europe PubMed Central

Niemann-Pick disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2682573%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

author name string

Elleder M

1

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Europe PubMed Central

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3 October 2019

publication date

1 September 1989

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2682573%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

Pathology, Research and Practice

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2682573%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

185

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2682573%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2682573%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

293-328

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2682573%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease and giant cell transformation of the liver

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Metabolism of sphingomyelin by intact cultured fibroblasts: differentiation of Niemann-Pick disease type A and B

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic forms

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick Disease in a Poodle Dog

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

The active site of lysosomal sphingomyelinase: evidence for the involvement of hydrophobic and ionic groups.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult Niemann-Pick disease--a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of Gaucher's and Niemann-pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Macula halo syndrome. Variant of Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Ocular Motor Signs in Some Metabolic Diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Primary biliary disease and Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease: a review of eighteen patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Glucosylceramide in plasma of patients with Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult niemann-pick disease with sea-blue histiocytes in the spleen

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Lactosyl Ceramidosis: Catabolic Enzyme Defect of Glycosphingolipid Metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

LIPID-LADEN HISTIOCYTES IN THE SPLEEN IN THROMBOCYTOPENIC PURPURA.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A histochemical study of the enzyme profile of Krabbe's cells

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Ito cells in lysosomal storage disorders. An ultrastructural study

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuropathology of various types of Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Histochemical and ultrastructural study of Gaucher cells

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Studies in lipid histochemistry. XII. Histochemical detection of sphingomyelin

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Studies in lipid histochemistry. VI. Problems of extraction with acetone in lipid histochemistry

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease (Crocker's type C): A histological study of the distribution and qualitative differences fo the storage process

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease type C with enhanced glycolipid storage

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

An unusual case of phospholipidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Adrenal changes in Niemann-Pick disease: differences between sphingomyelinase deficiency and type C.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease. Analysis of liver tissue in sphingomyelinase-deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Liver findings in Niemann-Pic disease type C

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Lipidosis with a predominant storage of phosphoglycerides (phospholipidosis type II--Baar, Wiedemann)

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease (type C). Histopathology and ultrastructure

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Ophthalmoplegic neurolipidosis--storage cells in heterocygotes

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Studies on a sphingolipid activator protein (SAP-2) in fibroblasts from patients with lysosomal storage diseases, including Niemann-Pick disease Type C

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical analysis of liver biopsy specimens, bone marrow, peripheral white and red cells, and serum for the diagnosis in vivo of Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Incorporation of (35S)sulfate and (3H)glucosamine into glycoaminoglycans in rat incisor predentine and dentine: comparison by autoradiography of fixation by rapid-freezing, freeze-substitution, and aldehyde fixation

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Improved lipid preservation by malachite green-glutaraldehyde fixation in rat incisor predentine and dentine

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Ceramide hexosides in niemann-pick disease brain

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive paresis of vertical gaze in lipid storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis)

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Phospholipase C activity of rat tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Ocular pathology of infantile Niemann-Pick disease. Study of fetus of 23 weeks' gestation

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Incorporation of polyunsaturated fatty acids into bis(monoacylglycero)phosphate and other lipids of macrophages and of fibroblasts from control and Niemann-Pick patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Deficiency of phospholipase C acting on phosphatidylglycerol in Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease in infancy. Report of two siblings with clinical, histologica dn chemical studies

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Low and moderate concentrations of lysobisphosphatidic acid in brain and liver of patients affected by some storage diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Cataplexy in variant forms of Niemann-Pick disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Juvenile dystonic lipidosis: An unusual form of neurovisceral storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Accumulation of lactosyl ceramide in leukocytes of patients with adult Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Inhibitions of degradation of rat liver aldolase and lactic dehydrogenase by N-[N-(L-3-trans-carboxyoxirane-2-carbonyl)-L-leucyl] agmatine or leupeptin in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Peripheral neuropathy in type A Niemann-Pick disease. A morphological study

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Diffuse histiocytosis of the spleen and idiopathic thrombocytopenic purpura (ITP): histochemical and ultrastructural studies

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical and ultrastructural studies on an Epstein-Barr virus-transformed lymphoid cell line from a Niemann-Pick disease type C patient

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Cor pulmonale in an adult secondary to Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Ocular involvement in Niemann-Pick disease type B

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult Niemann-Pick disease: its relationship to the syndrome of the sea-blue histiocyte

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

The Subacute Form of Niemann-Pick Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

LIPID HISTOCHEMISTRY AND ELECTRON MICROSCOPY IN ADULT NIEMANN-PICK DISEASE.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

FORM-CELL RETICULOSIS OF MICE: AN INHERITED CONDITION RESEMBLING GAUCHER'S AND NIERMANN-PICK DISEASES.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and biochemical diagnostics of Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A case of juvenile Gaucher's disease with intraneuronal lipid storage

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C).

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Inhibition of human fibroblasts sphingomyelinase by cholesterol and 7-dehydrocholesterol

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Conjunctival ultrastructure in Niemann-Pick disease type C

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Sphingomyelinase activities in cultured skin fibroblasts from patients with Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss of lipid during fixation for electron microscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Metabolism of sphingomyelin in cultured skin fibroblasts from patients with different types of Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Sea-blue histiocytosis associated with hyperlipidaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease--type C. Ocular histopathologic and electron microscopic studies

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease type B: clinical signs and follow-up of a new case

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Letter: Beta receptors and renin release

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease in the adult. Lipid analyses of the body organs and the brain of autopsy- resp. biopsy material from two cases

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Hepatic storage of bis(monoacylglycerol) phosphate without concomitant storage of sphingomyelin in a 72-year-old patient with a partial deficiency of sphingomyelinase

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Sphingomyelinase in cultured skin fibroblasts from normal and Niemann-Pick type C patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Studies on the Activation of Sphingomyelinase Activity in Niemann-Pick Type A, B, and C Fibroblasts: Enzymological Differentiation of Types A and B

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-pick disease type D: Lipid analyses and studies on sphingomyelinases

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Accumulation of a glycerolphospholipid in classical niemann-pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Ceroid histiocytosis of the spleen in hyperlipemia: relationship to the syndrome of the sea-blue histiocyte

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A lysosomal storage disorder in mice: a model of Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Effects of dimethylsulfoxide on sphingomyelinase in cultured human fibroblasts and correction of sphingomyelinase deficiency in fibroblasts from Niemann-Pick patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Galactosialidosis (beta-galactosidase-neuraminidase deficiency): a possible role of serine-thiol proteases in the degradation of beta-galactosidase molecules

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Chemical and biochemical studies in fetuses affected with nieman-pick disease type A

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Immunological studies on lysosomal sphingomyelinase: Identification of a 28 000-Da component deficient in urine from patients with Niemann-Pick disease types A and B

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

SPLENOMEGALY WITH RARE MORPHOLOGICALLY DISTINCT HISTIOCYTE; A SYNDROME

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Electron microscopy of lung in niemann-pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Ultrastructural findings in 9 fetuses following prenatal diagnosis of neurolipidoses

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease associated with liver disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Brain lipids of a case of juvenile Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Chemical pathology of Krabbe's disease. III. Ceramide-hexosides and gangliosides of brain

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease — development and evaluation of a microprocedure

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

The effect of digitonin-containing fixatives on the retention of free cholesterol and cholesterol esters

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Ocular Manifestations of Group A Niemann-Pick Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Extraction of membrane lipids during fixation, dehydration and embedding of Acholeplasma laidlawii-cells for electron microscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-Pick disease: a genetic model in Siamese cats

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Niemann-pick disease: Prenatal diagnoses and studies of sphingomyelinase activities

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Sphingomyelinase isozymes of human tissues: A hypothesis on enzymatic differentiation of the neuropathic and non-neuropathic forms of Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Acid Sphingomyelinase of Human Brain: Purification to Homogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

A progressive neurologic disorder with supranuclear vertical gaze paresis and distinctive bone marrow cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical heterogeneity in a sibship with Niemann-Pick disease type C

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Sphingomyelinase activity levels in human peripheral blood leukocytes, using [3H]sphingomyelin as substrate: study of heterozygotes and homozygotes for Niemann-pick disease variants

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2889%2980006-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0344-0338(89)80006-8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2682573%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2682573%20AND%20SRC:MED&resulttype=core&format=json

3 October 2019

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