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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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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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Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

Clinical genetics, 2010-09, Vol.78 (3), p.236-246

2010

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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

Journal of Medical Genetics, 2014-01, Vol.51 (1), p.1-9

2014

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Non-neuronopathic Gaucher disease due to saposin C deficiency

Clinical genetics, 2007-12, Vol.72 (6), p.538-542

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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Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression

Bone marrow transplantation (Basingstoke), 2007-03, Vol.39 (5), p.309-310

2007

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Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

Clinical genetics, 2015-08, Vol.88 (2), p.161-166

2015

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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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Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.988-988

2007

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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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Persistent 5‐oxoprolinuria with normal glutathione synthase and 5‐oxoprolinase activities

Journal of inherited metabolic disease, 2006-08, Vol.29 (4), p.587-587

2006

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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

American journal of human genetics, 1999-02, Vol.64 (2), p.479-494

1999

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External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.979-990

2005

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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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Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis

Journal of medical genetics, 2007-04, Vol.44 (4), p.277-jmg

2007

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Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset

Annals of neurology, 1998-04, Vol.43 (4), p.540-544

1998

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Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses

Clinical chemistry (Baltimore, Md.), 1989-07, Vol.35 (7), p.1472

1989

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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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Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation

Clinical genetics, 2011-11, Vol.80 (5), p.500-502

2011

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The total free radical trapping ability of cord blood plasma in preterm and term babies

Pediatric research, 1989-07, Vol.26 (1), p.20-24

1989

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Donor-Derived Cells in the Central Nervous System of Twitcher Mice after Bone Marrow Transplantation

Science (American Association for the Advancement of Science), 1988-02, Vol.239 (4843), p.1035-1038

1988

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Secretory phospholipase A in newborn infants with sepsis

Journal of Perinatology, 2008-04, Vol.28 (4), p.291-296

2008

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Secretory phospholipase A2 in newborn infants with sepsis

Journal of perinatology, 2008-04, Vol.28 (4), p.291-296

2008

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Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β‐oxidation defects

Journal of inherited metabolic disease, 2001-06, Vol.24 (3), p.337-344

2001

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Sanfilippo syndrome: A mini-review

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

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

Non-neuronopathic Gaucher disease due to saposin C deficiency

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

Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

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

Failure to detect Fabry patients in a cohort of prematurely atherosclerotic males

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

Persistent 5‐oxoprolinuria with normal glutathione synthase and 5‐oxoprolinase activities

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study

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

Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis

Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset

Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses

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

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation

The total free radical trapping ability of cord blood plasma in preterm and term babies

Donor-Derived Cells in the Central Nervous System of Twitcher Mice after Bone Marrow Transplantation

Secretory phospholipase A in newborn infants with sepsis

Secretory phospholipase A2 in newborn infants with sepsis

Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β‐oxidation defects

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