(Q71814795)

English

A family with combined Farber and Sandhoff, isolated Sandhoff and isolated fetal Farber disease: postnatal exclusion and prenatal diagnosis of Farber disease using lipid loading tests on intact cultured cells

scientific article published on 01 August 1995

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588966%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A family with combined Farber and Sandhoff, isolated Sandhoff and isolated fetal Farber disease: postnatal exclusion and prenatal diagnosis of Farber disease using lipid loading tests on intact cultured cells (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588966%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

lipid metabolism

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588966

27 May 2024

author name string

T. Levade

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588966

27 May 2024

H. Enders

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588966

27 May 2024

M. Schliephacke

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588966

27 May 2024

K. Harzer

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588966

27 May 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7588966

27 May 2024

publication date

1 August 1995

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588966%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF02079069.pdf

Portable Document Format

1 reference

10.1007/BF02079069

https://api.crossref.org/works/10.1007/BF02079069

27 May 2024

http://link.springer.com/article/10.1007/BF02079069/fulltext.html

1 reference

10.1007/BF02079069

https://api.crossref.org/works/10.1007/BF02079069

27 May 2024

http://link.springer.com/content/pdf/10.1007/BF02079069

1 reference

10.1007/BF02079069

https://api.crossref.org/works/10.1007/BF02079069

27 May 2024

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588966%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

154

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588966%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588966%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

643-648

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588966%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

https://scigraph.springernature.com/pub.10.1007/bf02079069

0 references

Role of lysosomal acid ceramidase in the metabolism of ceramide in human skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial enzyme deficiencies: residual activities and the development of neurological disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphi

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The in situ degradation of ceramide, a potential lipid mediator, is not completely impaired in Farber disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic studies on the blood of carriers of a Tay-Sachs disease variant (variant O)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of Farber's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of combined Farber and Sandhoff disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7588966

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatische Untersuchungen im Blut von Überträgern einer Variante der Tay-Sachsschen Erkrankung (Variate O)

7

1 reference

10.1007/BF02079069

https://api.crossref.org/works/10.1007/BF02079069

27 May 2024

Monatsschrift fur Kinderheilkunde

13

142

753

author name string

K Marquard

publication date

1994

1 reference

10.1007/BF02079069

https://api.crossref.org/works/10.1007/BF02079069

27 May 2024

Identifiers

10.1007/BF02079069

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588966%20AND%20SRC:MED&resulttype=core&format=json

21 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:7588966%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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