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Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.543-553

2013

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Hepatocellular carcinoma in Gaucher disease: an international case series

Journal of inherited metabolic disease, 2018-09, Vol.41 (5), p.819-827

2018

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Queer vulnerability and disaster situations

AIMS geosciences, 2024-01, Vol.10 (1), p.196-207

2024

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Evaluation of acoustic radiation force impulse imaging for determination of liver stiffness using transient elastography as a reference

World journal of gastroenterology : WJG, 2012-03, Vol.18 (10), p.1077-1084

2012

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Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

European journal of internal medicine, 2017-01, Vol.37, p.25-32

2017

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Low Incidence of Esophageal Lesions After Pulmonary Vein Isolation Using Contact-Force Sensing Catheter Without Esophageal Temperature Probe

International Heart Journal, 2017/11/01, Vol.58(6), pp.880-884

2017

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Understanding the natural history of Gaucher disease

American journal of hematology, 2015-07, Vol.90 (S1), p.S6-S11

2015

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Reply to Letter to the Editor: “The added benefit of contrast-enhanced CT in the evaluation of incidental FDG-avid colon lesions”

European journal of nuclear medicine and molecular imaging, 2020-09, Vol.47 (10), p.2245-2246

2020

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Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients

Current medical research and opinion, 2006-06, Vol.22 (6), p.1045-1064

2006

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Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly

Baillière's best practice & research. Clinical gastroenterology, 2010-10, Vol.24 (5), p.619-628

2010

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Hydrophobic Bile Salts Induce Hepatocyte Shrinkage via NADPH Oxidase Activation

Cellular physiology and biochemistry, 2007-01, Vol.19 (1-4), p.89-98

2007

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Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years

British journal of haematology, 2012-08, Vol.158 (4), p.528-538

2012

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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

Blood, 2006-08, Vol.108 (3), p.830-835

2006

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Involvement of Integrins in Osmosensing and Signaling toward Autophagic Proteolysis in Rat Liver

The Journal of biological chemistry, 2003-07, Vol.278 (29), p.27088-27095

2003

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Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

Internal medicine journal, 2019-05, Vol.49 (5), p.578-591

2019

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Cardiometabolic risk factor clustering in patients with deficient branched‐chain amino acid catabolism: A case‐control study

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.981-993

2020

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In yeast, loss of Hog1 leads to osmosensitivity of autophagy

Biochemical journal, 2006-02, Vol.394 (Pt 1), p.153-161

2006

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Hepatic encephalopathy in chronic liver disease: a clinical manifestation of astrocyte swelling and low-grade cerebral edema?

Journal of Hepatology, 2000-06, Vol.32 (6), p.1035-1038

2000

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Digital single-operator cholangioscopy with EHL as salvage therapy of an internalized and stone-impacted biliary stent 13 years after implantation

Endoscopy International Open, 2022-03, Vol.10 (3), p.E269-E272

2022

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Radiofrequency Pulmonary Vein Isolation without Esophageal Temperature Monitoring: Contact-Force Characteristics and Incidence of Esophageal Thermal Damage

Journal of clinical medicine, 2022-11, Vol.11 (23), p.6917

2022

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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Journal of inherited metabolic disease, 2017, Vol.40 (1), p.75-101

2017

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Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

Hepatocellular carcinoma in Gaucher disease: an international case series

Percutaneous transhepatic or endoscopic ultrasound-guided biliary drainage in malignant distal bile duct obstruction using a self-expanding metal stent: Study protocol for a prospective European multicenter trial (PUMa trial)

Queer vulnerability and disaster situations

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

Evaluation of acoustic radiation force impulse imaging for determination of liver stiffness using transient elastography as a reference

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

Low Incidence of Esophageal Lesions After Pulmonary Vein Isolation Using Contact-Force Sensing Catheter Without Esophageal Temperature Probe

Understanding the natural history of Gaucher disease

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

Reply to Letter to the Editor: “The added benefit of contrast-enhanced CT in the evaluation of incidental FDG-avid colon lesions”

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients

Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly

Hydrophobic Bile Salts Induce Hepatocyte Shrinkage via NADPH Oxidase Activation

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years

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

Involvement of Integrins in Osmosensing and Signaling toward Autophagic Proteolysis in Rat Liver

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

Cardiometabolic risk factor clustering in patients with deficient branched‐chain amino acid catabolism: A case‐control study

In yeast, loss of Hog1 leads to osmosensitivity of autophagy

Hepatic encephalopathy in chronic liver disease: a clinical manifestation of astrocyte swelling and low-grade cerebral edema?

Digital single-operator cholangioscopy with EHL as salvage therapy of an internalized and stone-impacted biliary stent 13 years after implantation

Radiofrequency Pulmonary Vein Isolation without Esophageal Temperature Monitoring: Contact-Force Characteristics and Incidence of Esophageal Thermal Damage

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

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