Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.

Thaddeus E. Kelly(Dundalk Institute of Technology), Edward Ives, Ceres E. Espiritu, Henry Taylor(University of Virginia), Meinhard Robinow(Wright State University), G. H. Thomas(Kennedy Krieger Institute), M J Bull, Murray Feingold, J H Glaser, V.A. McKusick(University of Baltimore), Luigi Luzzatti, William S. Sly, Edward M. Ashenhurst

PubMed

October 1, 1975

Cited by 65

Related Papers

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

|Nature Genetics|2001|3.4k

International nosology of heritable disorders of connective tissue, Berlin, 1986

|American Journal of Medical Genetics|1988|733

Diagnostic criteria for Walker‐Warburg syndrome

|American Journal of Medical Genetics|1989|448

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 cases

|American Journal of Medical Genetics|1987|140

Teratogenicity of anticonvulsant drugs. I: Review of the literature

|American Journal of Medical Genetics|1984|129