(Q48744983)

English

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

scientific article published in September 1983

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scholarly article

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Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

1 reference

based on heuristic

inferred from title

Niemann-Pick disease

1 reference

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author name string

M Elleder

1

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

J Cihula

2

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

publication date

1 September 1983

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

140

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

4

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

323-328

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

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

1 reference

https://api.crossref.org/works/10.1007%2FBF00442673

21 January 2018

Adult Niemann-Pick disease (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

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Familial sea-blue histiocytes with acid phosphatemia. A syndrome resembling Gaucher disease: the Lewis variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Niemann-Pick disease: lipid storage in bone marrow macrophages

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural study of biopsy specimens of rectal mucosa. Its use in neuronal storage diseases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

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Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

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Phenotypic diversity of human diseases resulting from allelic series

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

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The infantile chronic-visceral form of niemann-Pick diseases (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuropathology of various types of Niemann-Pick disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/6628453

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00442673

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/6628453

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