(Q48910552)

English

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

scientific article published on 23 April 2005

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

1 reference

based on heuristic

inferred from title

Gaucher's disease

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

Daniel Grinberg

5

object named as

Daniel Grinberg

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

author name string

Anna Diaz-Font

1

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

Raül Santamaria

3

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

Lluïsa Vilageliu

4

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

Amparo Chabás

6

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

publication date

23 April 2005

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

117

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

2-3

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

275-277

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

https://scigraph.springernature.com/pub.10.1007/s00439-005-1288-x

0 references

Molecular and cell biology of acid beta-glucosidase and prosaposin

1 reference

https://pubmed.ncbi.nlm.nih.gov/15856305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15856305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/15856305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

https://pubmed.ncbi.nlm.nih.gov/15856305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/15856305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15856305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15856305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-005-1288-X

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/15856305

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