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Mucolipidosis 2

Living reference work entry

Abstract

Mucolipidosis II (ML II), or I-cell disease, is a rare autosomal recessively inherited storage disorder of lysosomal enzyme hydrolase trafficking due to deficient activity of the multimeric enzyme UDP-N-acetylglucosamine-1-phosphotransferase. The term “I-cell disease” is derived from the observation that fibroblasts from affected individuals show dense inclusions filled with storage material.

Keywords

Hematopoietic Stem Cell Transplantation Preimplantation Genetic Diagnosis Tubular Bone Umbilical Cord Blood Transplantation Corneal Clouding 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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