(Q80260257)

English

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

scientific article published on 27 July 2006

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Niemann-Pick disease

1 reference

based on heuristic

inferred from title

Gaucher's disease

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Ellen Schaefer

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Till Lührs

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Latha Mani

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Jana Kuhn

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Marie T Vanier

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Frank Krummenauer

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Andreas Gal

8

1 reference

Europe PubMed Central

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30 December 2019

Michael Beck

9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16972172%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Eugen Mengel

10

1 reference

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30 December 2019

publication date

27 July 2006

1 reference

Europe PubMed Central

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30 December 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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30 December 2019

29

1 reference

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30 December 2019

5

1 reference

Europe PubMed Central

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30 December 2019

647-652

1 reference

Europe PubMed Central

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30 December 2019

https://scigraph.springernature.com/pub.10.1007/s10545-006-0363-3

0 references

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders]

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strong induction of members of the chitinase family of proteins in atherosclerosis: chitotriosidase and human cartilage gp-39 expressed in lesion macrophages.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differentiation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human chitotriosidase gene. Nature of inherited enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chitotriosidase as a marker of macrophage stimulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Niemann-Pick disease type C in adults

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease — development and evaluation of a microprocedure

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma chitotriosidase activity in patients with beta-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serum chitotriosidase activity in Gaucher patients on enzyme replacement therapy (ERT)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update

1 reference

https://pubmed.ncbi.nlm.nih.gov/16972172

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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