Search filters

List of works by Johanna E M Groener

Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters

scientific article published on 01 April 2004

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

scientific article

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

scientific article

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

scientific article published on 30 May 2006

Ceramide in lipid emulsions used in parenteral nutrition: an innocent bystander?

scientific article published on 01 March 2011

Chronic treatment with pioglitazone does not protect obese patients with diabetes mellitus type II from free fatty acid-induced insulin resistance

scientific article published on 24 October 2006

Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy).

scientific article published in March 2002

Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients

scientific article published on 31 October 2011

Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.

scientific article published on 28 March 2009

Detection of chitinase activity by 2-aminobenzoic acid labeling of chito-oligosaccharides.

scientific article

Dual-action lipophilic iminosugar improves glycemic control in obese rodents by reduction of visceral glycosphingolipids and buffering of carbohydrate assimilation

scientific article published on January 2010

Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes

scientific article published on 6 July 2012

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

scholarly article

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

scientific article published on 25 August 2011

Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy

scientific article published on 16 September 2011

Gender-related differences in the metabolic response to fasting.

scientific article published on 12 June 2007

Glycosphingolipids and insulin resistance

scientific article published on January 2011

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

scientific article published on 01 March 2007

Hemolytic uremic syndrome attributable to Streptococcus pneumoniae infection: a novel cause for secondary protein N-glycan abnormalities

scientific article

Kupffer cells promote hepatic steatosis via interleukin-1beta-dependent suppression of peroxisome proliferator-activated receptor alpha activity

scientific article published in February 2010

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome

scientific article

Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial.

scientific article

Monitoring of Gaucher patients with a novel chitotriosidase assay

scientific article published on 06 March 2007

Muscle adaptation to short-term fasting in healthy lean humans

scientific article published on 8 April 2008

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

scientific article published on 07 December 2007

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry

scientific article published on 12 December 2012

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

scientific article

Substrate reduction therapy of glycosphingolipid storage disorders.

scientific article published on April 2006

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

scientific article published on 09 March 2006

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

scientific article published on 30 July 2003

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

scientific article published on 18 April 2008

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

scientific article

Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine

scientific article published on 06 August 2012

Paulina is supported by:

About Paulina

Help