Laboratory and genetic evaluation of Gaucher disease (Q37780488)

23 August 2017

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title

Laboratory and genetic evaluation of Gaucher disease (English)

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23 August 2017

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Olaf A Bodamer

1

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23 August 2017

Christina Hung

series ordinal

2

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23 August 2017

language of work or name

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16 August 2010

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Wiener Medizinische Wochenschrift

23 August 2017

published in

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23 August 2017

volume

160

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23 August 2017

issue

23-24

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23 August 2017

page(s)

600-604

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Gaucher disease: pathological mechanisms and modern management

23 August 2017

cites work

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Non-neuronopathic Gaucher disease due to saposin C deficiency.

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Lysosomal storage disorders in the newborn

21 January 2018

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Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease

21 January 2018

1 reference

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Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease

21 January 2018

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Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

21 January 2018

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

21 January 2018

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Evolution of mammalian chitinase(-like) members of family 18 glycosyl hydrolases.

21 January 2018

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The human chitotriosidase gene. Nature of inherited enzyme deficiency

21 January 2018

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Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention.

21 January 2018

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

21 January 2018

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The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

21 January 2018

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

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Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

21 January 2018

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The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

21 January 2018

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A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

21 January 2018

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

21 January 2018

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CCL18: a urinary marker of Gaucher cell burden in Gaucher patients

21 January 2018

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12 December 2020

Monitoring of Gaucher patients with a novel chitotriosidase assay

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12 December 2020

Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies

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12 December 2020

Evaluation of three biochemical markers in the monitoring of Gaucher disease

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12 December 2020

Complex alleles of the acid beta-glucosidase gene in Gaucher disease

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12 December 2020

Serum ferritin concentration in Gaucher's disease

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12 December 2020

Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients

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12 December 2020

Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease

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12 December 2020

Twin pairs showing discordance of phenotype in adult Gaucher's disease

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12 December 2020

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

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12 December 2020

Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses

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12 December 2020

Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention

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12 December 2020

Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family

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12 December 2020

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

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12 December 2020

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry

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12 December 2020

Cytokines in Gaucher's disease

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12 December 2020

10.1007/S10354-010-0814-1

Identifiers

DOI

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release_ue2j2sg7frbnpgactola7wozkm

23 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/ue2j2sg7frbnpgactola7wozkm

24 November 2022

mapped directly with Wikidata item

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