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Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency
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Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy
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Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients
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GENETICS IN MEDICINE (2013)
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JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)
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AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2012)
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients
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Plasma chitotriosidase activity in children with lysosomal storage disorders
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Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease
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Niemann-Pick disease type B with severe coronary artery disease and early recurrence after coronary artery bypass grafting
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Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases
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