Concepedia
Orphanet Journal of Rare Diseases · 2008 · 146 citations · 12 references
Open access
12
The metabolic and molecular bases of inherited disease
Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations
Disease Mechanism, Genetic Disorder, Genetics +6
The frequency of lysosomal storage diseases in The Netherlands
Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer et al. · Human Genetics · 1999 · 724 citations
Lysosomal Storage Diseases, Mendelian Disorder, Genetic Disorder +8
The New England Journal of Medicine
New England Journal of Medicine · 1928 · 607 citations
Humanity And Medicine, Philosophy Of Medicine, New England Journal +5
Cumulative incidence rates of the mucopolysaccharidoses in Germany
Frank Baehner, C. Schmiedeskamp, Frank Krummenauer et al. · Journal of Inherited Metabolic Disease · 2005 · 385 citations
Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human α-<scp>l</scp>-Iduronidase (Laronidase)
J. E. Wraith, Michael Beck, Roderick Lane et al. · PEDIATRICS · 2007 · 243 citations