Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease (original) (raw)

Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring

Clinical Biochemistry, 2013

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

Roberto Giugliani

Clinical Biochemistry, 2007

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

Pilar Giraldo

2001

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Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience

Dr. Zeinab Abdallah

Heliyon, 2019

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Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes – A statistical insight

Agnieszka Ługowska

Molecular Genetics and Metabolism, 2018

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

Pedro CHAVES GIRALDO, Pilar Alfonso

Haematologica, 2001

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A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach

Agnieszka Ługowska

Biomolecules, 2023

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

Anna Tylki-szymanska

Clinical Biochemistry, 1998

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Biochemical properties of β-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers

Roberto Giugliani

Clinica Chimica Acta, 2005

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Relationship between Glucocerebrosidase Activity and clinical response to Enzyme Replacement Therapy in patients with Gaucher Disease type I

Vicente Giner

Basic & clinical pharmacology & toxicology, 2018

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Quantification of glucosylceramide in plasma of Gaucher disease patients

Luciene Vianna, Maria Muller

Brazilian Journal of Pharmaceutical Sciences, 2010

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Identification of chitotriosidase isoforms in plasma of Gaucher disease patients by two dimensional gel electrophoresis

laureano simon

Biochimica Et Biophysica Acta-proteins and Proteomics, 2006

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

Roberto Giugliani

Clinical Biochemistry, 2004

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12 A practical approach to diagnosis and management of Gaucher's disease

Mark Sonderup

Baillière's Clinical Haematology, 1997

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Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease

Anna Tylki-szymanska, Agnieszka Ługowska

Clinical Biochemistry, 2000

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Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts

Sonja Van Weely

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1991

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Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

Alexandra Craciun

Romanian Journal of Laboratory Medicine, 2017

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Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

Gary Murray

Proceedings of the National Academy of Sciences, 1990

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Validity of β-d-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients

Maria Calevo

Clinical Biochemistry, 2014

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Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy

Mario Cabrera

Clinica Chimica Acta, 2004

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Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene

Ana Lúcia Brunialti Godard

JIMD Reports, 2012

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Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies

Helen Michelakakis

Journal of Inherited Metabolic Disease, 1995

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Enzymic diagnosis in 27 cases with Gaucher's disease

Klaus Harzer

Clinica Chimica Acta, 1980

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Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity

Michael Fietz

Molecular Genetics and Metabolism, 2002

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Synthetic substrate ß-glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease

Cameron Clark

Clinical Genetics, 2008

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Enzyme replacement therapy in Gaucher's disease: a rapid, high-yield method for purification of glucocerebrosidase

Joseph Shiloach

Proceedings of the National Academy of Sciences, 1976

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Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data

Elena Pavlova

Systematic reviews, 2017

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Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease (original) (raw)

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