Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis. (Q34721833)

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23 February 2020

title

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis (English)

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23 February 2020

1

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23 February 2020

Elisabeth A Cornelissen

8

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16

Elena Levtchenko

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23 February 2020

Lambertus van den Heuvel

3

object named as

Lambertus van den Heuvel

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23 February 2020

author name string

Samuel H Makar

2

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23 February 2020

Hanan Abdelaziz

4

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23 February 2020

Safaa M Abdelrahman

5

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23 February 2020

Xavier Bossuyt

6

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23 February 2020

Mirian C Janssen

7

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23 February 2020

Dirk J Lefeber

9

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23 February 2020

Leo Ab Joosten

10

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23 February 2020

Marwa M Nabhan

11

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23 February 2020

Fanny O Arcolino

12

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23 February 2020

Fayza A Hassan

13

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23 February 2020

Héloïse P Gaide Chevronnay

14

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23 February 2020

Neveen A Soliman

15

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23 February 2020

publication date

19 November 2014

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Orphanet Journal of Rare Diseases

23 February 2020

published in

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volume

9

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23 February 2020

page(s)

155

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Creative Commons Attribution 4.0 International

23 February 2020

copyright license

start time

19 November 2014

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1186/s13023-014-0155-z

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cites work

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Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

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Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis

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Successful treatment of the murine model of cystinosis using bone marrow cell transplantation.

7 July 2018

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Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity.

7 July 2018

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Cytokine production induced by binding and processing of calcium oxalate crystals in cultured macrophages

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New method for determining cystine in leukocytes and fibroblasts

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The human chitotriosidase gene. Nature of inherited enzyme deficiency

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

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Ultrastructure of the liver in a case of childhood cystinosis

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Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy

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Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

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12 December 2020

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

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Plasma Chitotriosidase Activity Is a Marker of Recovery in Transplanted Patients Affected by β-Thalassemia major

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12 December 2020

Chitotriosidase plasma activity in nephropathic cystinosis

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12 December 2020

Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase

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Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy

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Plasma Chitotriosidase Activity in Patients with β-Thalassemia

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Intestinal mucosa in nephropathic cystinosis

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12 December 2020

Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease

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Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis

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12 December 2020

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Identifiers

DOI

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Dimensions Publication ID

23 February 2020

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23 February 2020

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