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Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.991-1001

2014

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Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease

The journal of clinical endocrinology and metabolism, 2011-07, Vol.96 (7), p.2194-2205

2011

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The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.68-78

2007

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

Biochimica et biophysica acta, 2010-09, Vol.1802 (9), p.741-748

2010

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

Atherosclerosis, 2009-05, Vol.204 (1), p.267-272

2009

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Elevated plasma chitotriosidase activity in various lysosomal storage disorders

Journal of inherited metabolic disease, 1995-11, Vol.18 (6), p.717-722

1995

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GLUT‐1 deficiency without epilepsy—an exceptional case

Journal of inherited metabolic disease, 2003-01, Vol.26 (6), p.559-563

2003

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

Biochimica et biophysica acta, 2008, Vol.1781 (1), p.72-78

2008

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Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease

Netherlands journal of medicine, 2015-03, Vol.73 (3), p.129-132

2015

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

Molecular genetics and metabolism, 2006-11, Vol.89 (3), p.239-244

2006

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Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL‐receptor‐mediated endocytosis

Journal of inherited metabolic disease, 2001-10, Vol.24 (5), p.577-586

2001

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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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Effects of switching from a reduced dose 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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Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases

Acta pædiatrica (Oslo), 2005-03, Vol.94 (447), p.43-46

2005

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Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III

Journal of medical genetics, 2004-04, Vol.41 (4), p.e52-e52

2004

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Early‐infantile type of galactosialidosis as a cause of heart failure and neonatal ascites

Journal of inherited metabolic disease, 1999-06, Vol.22 (5), p.666-667

1999

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Induction of net mass lipid transfer reactions in plasma by wine consumption with dinner

European journal of clinical investigation, 1995-06, Vol.25 (6), p.390-395

1995

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Gene symbol: GLA

Human genetics, 2007-04, Vol.121 (2), p.295-295

2007

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Different locations of cholesteryl ester transfer protein and phospholipid transfer protein activities in plasma

Atherosclerosis, 1991-10, Vol.90 (2), p.159-168

1991

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Oxidized VLDL induces less triglyceride accumulation in J774 macrophages than native VLDL due to an impaired extracellular lipolysis

Arteriosclerosis, thrombosis, and vascular biology, 2000-01, Vol.20 (1), p.144-151

2000

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Plasma activities of lecithin:cholesterol acyltransferase, lipid transfer proteins and post-heparin lipases in inbred strains of rabbits hypo- or hyper-responsive to dietary cholesterol

Biochemical journal, 1993-08, Vol.293 (3), p.729-734

1993

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l-Arabinosuria: a new defect in human pentose metabolism

Molecular genetics and metabolism, 2002-09, Vol.77 (1), p.80-85

2002

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The Dutch Fabry cohort: Diversity of clinical manifestations and Gb 3 levels

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.68-78

2007

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Prenatal diagnosis of lysosomal storage diseases using fetal blood

Prenatal diagnosis, 1999-10, Vol.19 (10), p.930-933

1999

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Improved estimation of cholesteryl ester transfer/exchange activity in serum or plasma

Clinical chemistry (Baltimore, Md.), 1986-02, Vol.32 (2), p.283-286

1986

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Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy

Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease

The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels

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

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

Elevated plasma chitotriosidase activity in various lysosomal storage disorders

GLUT‐1 deficiency without epilepsy—an exceptional case

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

Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease

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

Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL‐receptor‐mediated endocytosis

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

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

Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III

Early‐infantile type of galactosialidosis as a cause of heart failure and neonatal ascites

Induction of net mass lipid transfer reactions in plasma by wine consumption with dinner

Gene symbol: GLA

Different locations of cholesteryl ester transfer protein and phospholipid transfer protein activities in plasma

Oxidized VLDL induces less triglyceride accumulation in J774 macrophages than native VLDL due to an impaired extracellular lipolysis

Plasma activities of lecithin:cholesterol acyltransferase, lipid transfer proteins and post-heparin lipases in inbred strains of rabbits hypo- or hyper-responsive to dietary cholesterol

l-Arabinosuria: a new defect in human pentose metabolism

The Dutch Fabry cohort: Diversity of clinical manifestations and Gb 3 levels

Prenatal diagnosis of lysosomal storage diseases using fetal blood

Improved estimation of cholesteryl ester transfer/exchange activity in serum or plasma

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