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List of works by Ben J H M Poorthuis

Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography-mass spectrometry

scientific article

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

scientific article

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

scientific article published on 31 October 2011

Cord blood Clara cell protein CC16 predicts the development of bronchopulmonary dysplasia.

scientific article published on 3 June 2008

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

scholarly article

Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results

scientific article published on 01 May 2008

Gene expression profile and histopathology of experimental bronchopulmonary dysplasia induced by prolonged oxidative stress

scientific article published in March 2004

Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residues.

scientific article published on 10 June 2010

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

scientific article published on 01 March 2007

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

scientific article (publication date: 1997)

Increased melanogenesis is a risk factor for oxidative DNA damage--study on cultured melanocytes and atypical nevus cells.

scientific article published in May 2008

Inhaled nitric oxide attenuates pulmonary inflammation and fibrin deposition and prolongs survival in neonatal hyperoxic lung injury

scientific article published on 23 March 2007

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

scientific article published in October 2005

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

Mannose phosphorylation in health and disease

scientific article

Meconium is a source of pro-inflammatory substances and can induce cytokine production in cultured A549 epithelial cells.

scientific article published on 2 July 2003

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

scientific article published in December 2010

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype ⬇️

scientific article published on September 18, 2010

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

scientific article published in May 2010

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

scientific article

Pentoxifylline reduces fibrin deposition and prolongs survival in neonatal hyperoxic lung injury

scientific article

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

scientific article published on 16 January 2015

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

Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry

scientific article

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

scientific article published on 17 September 2010

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

scientific article published on 06 August 2012

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