Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II)
2. Inter- and intrafamilial variability in mucolipidosis II (I-cell disease)
3. 2001. I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization. In: editors. The metabolic and molecular bases of inherited disease. New York: McGraw Hill, Inc., pp 3469-3482.
4. Radiological signs of mucolipidosis II or I-cell disease A study of nine cases
5. I-cell disease: A clinical picture
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