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Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C

Neurology, 2012-05, Vol.78 (20), p.1560-1567

2012

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Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial

Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-328, Article 328

2022

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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

BMC psychiatry, 2024-01, Vol.24 (1), p.23-23, Article 23

2024

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A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia

Arteriosclerosis, thrombosis, and vascular biology, 2007-08, Vol.27 (8), p.1803-1810

2007

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Sanfilippo syndrome: A mini-review

Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.240-252

2008

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Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials

Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.1-380, Article 380

2021

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Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.163-169

2022

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Screening for Fabry disease in high-risk populations: a systematic review

Journal of Medical Genetics, 2010-04, Vol.47 (4), p.217-222

2010

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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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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.498-505

2009

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Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

Current pharmaceutical biotechnology, 2011-06, Vol.12 (6), p.923-930

2011

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Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.76-84

2018

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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.488-497

2009

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Vasculopathy in patients with Fabry disease: Current controversies and research directions

Molecular genetics and metabolism, 2010-02, Vol.99 (2), p.99-108

2010

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Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.526-533

2012

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Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome

Bone marrow transplantation (Basingstoke), 2006-07, Vol.38 (1), p.17-21

2006

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Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.447-454

2014

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Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature

Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.100-106

2017

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Hearing loss in children with Fabry disease

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.725-731

2017

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Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids

Cellular and molecular life sciences : CMLS, 2009-04, Vol.66 (7), p.1283-1294

2009

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Remarkable differences: the course of life of young adults with galactosaemia and PKU

Journal of inherited metabolic disease, 2009-12, Vol.32 (6), p.706-712

2009

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Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.437-445

2016

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Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

Molecular genetics and metabolism, 2008-02, Vol.93 (2), p.104-111

2008

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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.630-639

2009

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A revised home treatment algorithm for Fabry disease: Influence of antibody formation

Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.132-137

2013

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Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C

Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia

Sanfilippo syndrome: A mini-review

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials

Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression

Screening for Fabry disease in high-risk populations: a systematic review

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

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

Vasculopathy in patients with Fabry disease: Current controversies and research directions

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome

Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature

Hearing loss in children with Fabry disease

Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids

Remarkable differences: the course of life of young adults with galactosaemia and PKU

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

A revised home treatment algorithm for Fabry disease: Influence of antibody formation

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