Farber disease: clinical presentation, pathogenesis and a new approach to treatment (Q35894517)

11 August 2017

1 reference

title

Farber disease: clinical presentation, pathogenesis and a new approach to treatment (English)

1 reference

11 August 2017

Karoline Ehlert

1

1 reference

11 August 2017

Michael Frosch

2

1 reference

11 August 2017

Natalja Fehse

3

1 reference

11 August 2017

Axel Zander

4

1 reference

11 August 2017

Johannes Roth

5

1 reference

11 August 2017

Josef Vormoor

6

1 reference

11 August 2017

language of work or name

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29 June 2007

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Pediatric Rheumatology Online Journal

11 August 2017

1 reference

11 August 2017

5

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11 August 2017

15

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A proinflammatory role for Fas in joints of mice with collagen-induced arthritis

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

A historical review of bone marrow transplantation for immunodeficiencies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Fas ligation on macrophages enhances IL-1R1-Toll-like receptor 4 signaling and promotes chronic inflammation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

The status of hematopoietic stem cell transplantation in lysosomal storage disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

New prospects for the treatment of lysosomal storage diseases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Ceramide enables fas to cap and kill.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Signalling sphingomyelinases: which, where, how and why?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Signal transduction of stress via ceramide

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Bone marrow transplantation for pediatric malignancies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

A case of combined Farber and Sandhoff disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Bone marrow transplantation for infantile ceramidase deficiency (Farber disease).

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

CD95 Signaling via Ceramide-rich Membrane Rafts

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1920510

Phenotypic variability in siblings with Farber disease

6 December 2018

1 reference

12 December 2020

Successful hematopoietic stem cell transplantation in Farber disease

1 reference

12 December 2020

Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy

1 reference

12 December 2020

Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives

1 reference

12 December 2020

Farber lipogranulomatosis: an unusual presentation in a black child

1 reference

12 December 2020

Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells

1 reference

12 December 2020

Lipogranulomatosis; a new lipo-glycoprotein storage disease

1 reference

12 December 2020

Identifiers

DOI

10.1186/1546-0096-5-15

1 reference

Dimensions Publication ID

11 August 2017

1034413545

0 references

Fatcat ID

release_wf2mitsw6rbtzfsqhli7dxeske

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wf2mitsw6rbtzfsqhli7dxeske

24 November 2022

mapped directly with Wikidata item

1 reference

11 August 2017

PubMed publication ID

17603888

1 reference