(Q40163380)

English

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

scientific article published on August 7, 1978

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scholarly article

1 reference

Europe PubMed Central

18 September 2017

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 (English)

1 reference

10.1007/BF00685003

https://api.crossref.org/works/10.1007/BF00685003

11 January 2023

Niemann-Pick disease

1 reference

based on heuristic

inferred from title

Niemann-Pick disease, type C1

1 reference

based on heuristic

inferred from title

author name string

K. Harzer

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A209660

11 January 2023

W. Schlote

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A209660

11 January 2023

J. Peiffer

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A209660

11 January 2023

H. U. Benz

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A209660

11 January 2023

A. P. Anzil

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A209660

11 January 2023

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=209660

11 January 2023

publication date

1 August 1978

1 reference

Europe PubMed Central

18 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=209660

11 January 2023

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00685003.pdf

Portable Document Format

1 reference

10.1007/BF00685003

https://api.crossref.org/works/10.1007/BF00685003

11 January 2023

http://link.springer.com/article/10.1007/BF00685003/fulltext.html

1 reference

10.1007/BF00685003

https://api.crossref.org/works/10.1007/BF00685003

11 January 2023

http://link.springer.com/content/pdf/10.1007/BF00685003

1 reference

10.1007/BF00685003

https://api.crossref.org/works/10.1007/BF00685003

11 January 2023

Acta Neuropathologica

1 reference

Europe PubMed Central

18 September 2017

43

1 reference

Europe PubMed Central

18 September 2017

97-104

1 reference

Europe PubMed Central

18 September 2017

1-2

1 reference

Europe PubMed Central

18 September 2017

https://scigraph.springernature.com/pub.10.1007/bf00685003

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile dystonic lipidosis: An unusual form of neurovisceral storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

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/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An infantile-juvenile, subchronically progressive lipoidosis of the sphingomyelinoses (Niemann-Pick) form--a new type? Clinical, pathohistological, electron microscopic and biochemical studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C.

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Augmentation of bis(monoacylglycerin)phosphric acid in sphingomyelinosis (M. Niemann-Pick?)

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glucosylceramide in plasma of patients with Niemann-Pick disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Subacute Form of Niemann-Pick Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The juvenile form of Niemann-Pick disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/209660

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/209660

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/209660

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00685003

1 reference

Europe PubMed Central

18 September 2017

release_qhte4czrhfbzzog5xgljfsnm5u

1 reference

https://api.fatcat.wiki/v0/release/qhte4czrhfbzzog5xgljfsnm5u

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

18 September 2017

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