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Orphanet Journal of Rare Diseases
|
November 18, 2025
Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes
Sebile Kilavuz, Kerri-Lee Wallom, Ana Catarina Gomes Almeida Augusto Caçote, et al.
Blood
|
September 13, 2003
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention
Rolf G Boot, Marri Verhoek, Maaike de Fost, et al.
Orphanet Journal of Rare Diseases
|
October 15, 2021
In-depth phenotyping for clinical stratification of Gaucher disease
Simona D'Amore, Kathleen Page, Aimée Donald, et al.
Orphanet Journal of Rare Diseases
|
October 29, 2025
Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes
Sebile Kilavuz, Kerri-Lee Wallom, Ana Catarina Gomes Almeida Augusto Caçote, et al.
Blood
|
February 8, 2017
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy
Timothy M Cox, Guillermo Drelichman, Renata Cravo, et al.
Blood Cells, Molecules & Diseases
|
December 22, 2009
Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease
Carla E M Hollak, Johannes M F G Aerts, Nadia Belmatoug, et al.
Journal of Lipid Research
|
December 28, 2020
Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions
Daphne E Boer, Mina Mirzaian, Maria J Ferraz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 11, 2012
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease
Raquel Duran, Niccolo E Mencacci, Aikaterini V Angeli, et al.
Blood Cells, Molecules & Diseases
|
October 7, 2009
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease
Carla E M Hollak, Stephan vom Dahl, Johannes M F G Aerts, et al.
Chembiochem : a European Journal of Chemical Biology
|
December 22, 2016
A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease
André R A Marques, Lianne I Willems, Daniela Herrera Moro, et al.
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Search research articles
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Showing results (101-110 of 117) with videos related to
Sort By:
Page
of 12
Orphanet Journal of Rare Diseases
|
November 18, 2025
Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes
Sebile Kilavuz, Kerri-Lee Wallom, Ana Catarina Gomes Almeida Augusto Caçote, et al.
Blood
|
September 13, 2003
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention
Rolf G Boot, Marri Verhoek, Maaike de Fost, et al.
Orphanet Journal of Rare Diseases
|
October 15, 2021
In-depth phenotyping for clinical stratification of Gaucher disease
Simona D'Amore, Kathleen Page, Aimée Donald, et al.
Orphanet Journal of Rare Diseases
|
October 29, 2025
Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes
Sebile Kilavuz, Kerri-Lee Wallom, Ana Catarina Gomes Almeida Augusto Caçote, et al.
Blood
|
February 8, 2017
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy
Timothy M Cox, Guillermo Drelichman, Renata Cravo, et al.
Blood Cells, Molecules & Diseases
|
December 22, 2009
Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease
Carla E M Hollak, Johannes M F G Aerts, Nadia Belmatoug, et al.
Journal of Lipid Research
|
December 28, 2020
Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions
Daphne E Boer, Mina Mirzaian, Maria J Ferraz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
December 11, 2012
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease
Raquel Duran, Niccolo E Mencacci, Aikaterini V Angeli, et al.
Blood Cells, Molecules & Diseases
|
October 7, 2009
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease
Carla E M Hollak, Stephan vom Dahl, Johannes M F G Aerts, et al.
Chembiochem : a European Journal of Chemical Biology
|
December 22, 2016
A Specific Activity-Based Probe to Monitor Family GH59 Galactosylceramidase, the Enzyme Deficient in Krabbe Disease
André R A Marques, Lianne I Willems, Daniela Herrera Moro, et al.
Page
of 12