Epidemiology of lysosomal storage diseases in Sweden

Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

(2013) C. Ronald Scott et al.   JOURNAL OF PEDIATRICS

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review

(2012) Rabab Debs et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

(2012) Thomas P Mechtler et al.   LANCET

Later Onset Phenotypes of Krabbe Disease: Results of the World-Wide Registry

(2012) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

(2010) Helena Poupětová et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

(2009) Wuh-Liang Hwu et al.   HUMAN MUTATION

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION