Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies (Q35028532)

5 August 2017

7 references

24 March 2019

22 April 2019

19 June 2019

19 November 2019

27 November 2019

13 December 2019

19 November 2020

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies (English)

1 reference

lysosomal storage disease

5 August 2017

1 reference

19 November 2020

7 references

24 March 2019

22 April 2019

19 June 2019

19 November 2019

27 November 2019

13 December 2019

19 November 2020

1 reference

19 November 2019

1 reference

27 November 2019

1 reference

13 December 2019

7

Gertjan Kramer

1 reference

5 August 2017

10

Josanne Cox-Brinkman

1 reference

5 August 2017

Johannes M F G Aerts

1

1 reference

5 August 2017

Wouter W Kallemeijn

2

1 reference

5 August 2017

Wouter Wegdam

3

1 reference

5 August 2017

Maria Joao Ferraz

4

1 reference

5 August 2017

Marielle J van Breemen

5

1 reference

5 August 2017

Nick Dekker

6

1 reference

5 August 2017

Ben J Poorthuis

8

1 reference

5 August 2017

Johanna E M Groener

9

1 reference

5 August 2017

Saskia M Rombach

11

1 reference

5 August 2017

Carla E M Hollak

12

1 reference

5 August 2017

Gabor E Linthorst

13

1 reference

5 August 2017

Martin D Witte

14

1 reference

5 August 2017

Henrik Gold

15

1 reference

5 August 2017

Gijs A van der Marel

16

1 reference

5 August 2017

Herman S Overkleeft

17

1 reference

5 August 2017

Rolf G Boot

18

1 reference

5 August 2017

language of work or name

1 reference

29 March 2011

1 reference

Journal of Inherited Metabolic Disease

5 August 2017

1 June 2011

7 references

24 March 2019

22 April 2019

19 June 2019

19 November 2019

27 November 2019

13 December 2019

19 November 2020

8 references

5 August 2017

24 March 2019

22 April 2019

19 June 2019

19 November 2019

27 November 2019

13 December 2019

19 November 2020

34

1 reference

5 August 2017

605-619

1 reference

5 August 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-011-9308-6

5 August 2017

0 references

cites work

A monozygotic twin pair with highly discordant Gaucher phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Pharmacological small molecules for the treatment of lysosomal storage disorders.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Imaging of enzyme replacement therapy using PET

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Vasculopathy in patients with Fabry disease: current controversies and research directions.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Glycosphingolipids--nature, function, and pharmacological modulation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Screening for Fabry disease in high-risk populations: a systematic review.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Glycosphingolipids and insulin resistance.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Potential artefacts in proteome analysis of plasma of Gaucher patients due to protease abnormalities.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Covalent inhibitors of glycosidases and their applications in biochemistry and biology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Epinephrine enhances lysosomal enzyme delivery across the blood brain barrier by up-regulation of the mannose 6-phosphate receptor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

The cerebral vasculopathy of Fabry disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Limitations in quantitation of the biomarker CCL18 in Gaucher disease blood samples by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

The biology of the Gaucher cell: the cradle of human chitinases.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Substrate reduction therapy of glycosphingolipid storage disorders.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Myelin-laden macrophages are anti-inflammatory, consistent with foam cells in multiple sclerosis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Is globotriaosylceramide a useful biomarker in Fabry disease?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Delivery of therapeutic agents to the central nervous system: the problems and the possibilities.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Therapeutic goals in the treatment of Gaucher disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Gaucher disease: complexity in a "simple" disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Crystal structures of allosamidin derivatives in complex with human macrophage chitinase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Structure of human chitotriosidase. Implications for specific inhibitor design and function of mammalian chitinase-like lectins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Clinically relevant therapeutic endpoints in type I Gaucher disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Identification of a novel acidic mammalian chitinase distinct from chitotriosidase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

The frequency of lysosomal storage diseases in The Netherlands.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Prevalence of lysosomal storage disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

The human chitotriosidase gene. Nature of inherited enzyme deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Plasma and metabolic abnormalities in Gaucher's disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Chitotriosidase, a chitinase, and the 39-kDa human cartilage glycoprotein, a chitin-binding lectin, are homologues of family 18 glycosyl hydrolases secreted by human macrophages

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

alpha-Galactosidase A deficient mice: a model of Fabry disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Accumulation of tissue glucosylsphingosine in Gaucher-like mouse induced by the glucosylceramidase inhibitor cyclophellitol.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Enhanced lysosomal acidification leads to increased chloroquine accumulation in CHO cells expressing the pfmdr1 gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

A procedure for the rapid purification in high yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Characterization of human glucocerebrosidase from different mutant alleles

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Mannose 6-phosphate-independent targeting of cathepsin D to lysosomes in HepG2 cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase.

8 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Secondary sphingolipid accumulation in a macrophage model of Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Increased chitotriosidase activity in serum of leprosy patients: association with bacillary leprosy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Correlation of bone marrow response with hematological, biochemical, and visceral responses to enzyme replacement therapy of nonneuronopathic (type 1) Gaucher disease in 30 adult patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Specificity and affinity of natural product cyclopentapeptide inhibitors against A. fumigatus, human, and bacterial chitinases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Different dose-dependent correction of MIP-1beta and chitotriosidase during initial enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction muta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109260

Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

25 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Very low serum adiponectin levels in patients with type 1 Gaucher disease without overt hyperglycemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9308-6

Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Demonstration of Fabry's disease deposits in placenta

1 reference

12 December 2020

Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

1 reference

12 December 2020

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

1 reference

12 December 2020

Individualised low-dose alglucerase therapy for type 1 Gaucher's disease

1 reference

12 December 2020

Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells

1 reference

12 December 2020

Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease

1 reference

12 December 2020

Synthesis, sorting, and processing into distinct isoforms of human macrophage chitotriosidase

1 reference

12 December 2020

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

1 reference

12 December 2020

Serial chitotriosidase activity estimations in neonatal systemic candidiasis

1 reference

12 December 2020

Arterial remodelling in Fabry disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

1 reference

12 December 2020

Manifestations of Fabry disease in placental tissue

1 reference

12 December 2020

Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis

1 reference

12 December 2020

Structural and functional changes in peripheral vasculature of Fabry patients

1 reference

12 December 2020

Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males

1 reference

12 December 2020

Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Extracellular matrix turnover and disease severity in Anderson-Fabry disease

1 reference

12 December 2020

Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease

1 reference

12 December 2020

HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma

1 reference

12 December 2020

Monitoring of Gaucher patients with a novel chitotriosidase assay

1 reference

12 December 2020

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease

1 reference

12 December 2020

Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease

1 reference

12 December 2020

Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter

1 reference

12 December 2020

Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience

1 reference

12 December 2020

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma

1 reference

12 December 2020

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

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen

1 reference

12 December 2020

Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease

1 reference

12 December 2020

Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation

1 reference

12 December 2020

10.1007/S10545-011-9308-6

Identifiers

DOI

1 reference

release_ruotr4gizfbhdbvytz5vpsmriu

5 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ruotr4gizfbhdbvytz5vpsmriu

24 November 2022

mapped directly with Wikidata item

PMCID

3109260

1 reference

5 August 2017

1 reference