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Literature DB >> 15669690

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

H Michelakakis¹, E Dimitriou, I Labadaridis.

Abstract

A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection.

Entities: Disease Mutation Species

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Year: 2004 PMID： 15669690 DOI： 10.1023/b:boli.0000043025.17721.fc

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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Cited

15 in total

1. A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV.

Authors: Hayriye Hizarcioglu-Gulsen; Aysel Yuce; Zuhal Akcoren; Burcu Berberoglu-Ates; Yusuf Aydemir; Erdal Sag; Serdar Ceylaner
Journal: JIMD Rep Date: 2014-08-26

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

Authors: Markus Ries; Ellen Schaefer; Till Lührs; Latha Mani; Jana Kuhn; Marie T Vanier; Frank Krummenauer; Andreas Gal; Michael Beck; Eugen Mengel
Journal: J Inherit Metab Dis Date: 2006-07-27 Impact factor: 4.982

3. Chitotriosidase as a marker of disease activity in sarcoidosis.

Authors: Jürgen Brunner; Sabine Scholl-Bürgi; Martina Prelog; Lothar-Bernd Zimmerhackl
Journal: Rheumatol Int Date: 2007-01-25 Impact factor: 2.631

Review 4. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Authors: A Caciotti; M Di Rocco; M Filocamo; S Grossi; F Traverso; A d'Azzo; C Cavicchi; A Messeri; R Guerrini; E Zammarchi; M A Donati; Amelia Morrone
Journal: J Neurol Date: 2009-07-01 Impact factor: 4.849

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

1. A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV.

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

3. Chitotriosidase as a marker of disease activity in sarcoidosis.

Review 4. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

5. The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

6. The Spectrum of Niemann-Pick Type C Disease in Greece.

7. Human chitotriosidase: a sensitive biomarker of sarcoidosis.

8. Plasma chitotriosidase activity in children with lysosomal storage disorders.

9. Chitinase inhibition promotes atherosclerosis in hyperlipidemic mice.

10. Chitotriosidase plasma activity in nephropathic cystinosis.