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Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine

Hypertension (Dallas, Tex. 1979), 2012-10, Vol.60 (4), p.998-1005

2012

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

Haematologica (Roma), 2007-02, Vol.92 (2), p.215-221

2007

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HPLC for Simultaneous Quantification of Total Ceramide, Glucosylceramide, and Ceramide Trihexoside Concentrations in Plasma

Clinical chemistry (Baltimore, Md.), 2007-04, Vol.53 (4), p.742-747

2007

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

Molecular genetics and metabolism, 2009-07, Vol.97 (3), p.196-201

2009

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Kupffer cells promote hepatic steatosis via interleukin‐1β–dependent suppression of peroxisome proliferator‐activated receptor α activity

Hepatology (Baltimore, Md.), 2010-02, Vol.51 (2), p.511-522

2010

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

PloS one, 2012-10, Vol.7 (10), p.e47805-e47805

2012

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

Blood, 2011-10, Vol.118 (16), p.e118-e127

2011

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

PloS one, 2007-07, Vol.2 (7), p.e598-e598

2007

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

Clinical chemistry (Baltimore, Md.), 2013-03, Vol.59 (3), p.547-556

2013

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

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.605-619

2011

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

Orphanet journal of rare diseases, 2011-10, Vol.6 (1), p.69-69, Article 69

2011

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

Molecular genetics and metabolism, 2008-07, Vol.94 (3), p.319-325

2008

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Type I Gaucher Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance

The journal of clinical endocrinology and metabolism, 2008-03, Vol.93 (3), p.845-851

2008

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Substrate reduction therapy of glycosphingolipid storage disorders

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.449-456

2006

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The frequency of lysosomal storage diseases in The Netherlands

Human genetics, 1999-08, Vol.105 (1-2), p.151-156

1999

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

Clinica chimica acta, 2008-03, Vol.389 (1-2), p.109-113

2008

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

Haematologica (Roma), 2012-12, Vol.97 (12), p.1850-1854

2012

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

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.627-630

2011

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

The Journal of biological chemistry, 2003-10, Vol.278 (42), p.40911-40916

2003

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

Analytical biochemistry, 2009, Vol.384 (1), p.191-193

2009

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

Blood cells, molecules, & diseases, 2010-03, Vol.44 (3), p.181-187

2010

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

Journal of neurology, 2004-04, Vol.251 (4), p.479-481

2004

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MODERATE DOSES OF ALCOHOLIC BEVERAGES WITH DINNER AND POSTPRANDIAL HIGH DENSITY LIPOPROTEIN COMPOSITION

Alcohol and alcoholism (Oxford), 1998-07, Vol.33 (4), p.403-410

1998

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

Clinical chemistry (Baltimore, Md.), 2002-05, Vol.48 (5), p.781-784

2002

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Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine

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

HPLC for Simultaneous Quantification of Total Ceramide, Glucosylceramide, and Ceramide Trihexoside Concentrations in Plasma

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

Kupffer cells promote hepatic steatosis via interleukin‐1β–dependent suppression of peroxisome proliferator‐activated receptor α activity

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

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

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

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

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

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

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

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

Type I Gaucher Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance

Substrate reduction therapy of glycosphingolipid storage disorders

The frequency of lysosomal storage diseases in The Netherlands

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

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

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

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

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

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

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

MODERATE DOSES OF ALCOHOLIC BEVERAGES WITH DINNER AND POSTPRANDIAL HIGH DENSITY LIPOPROTEIN COMPOSITION

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

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