Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II)

Author:

Aula Pertti,Rapola Juhani,Autio Seppo,Raivio Kari,Karjalainen Olavi

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. I-cell disease: multiple lysosomal enzyme defect;Lightbody;Lancet,1971

2. I-cell disease: Biochemical studies;Leroy;Pediatr Res,1972

3. Leroy's I-cell disease: markedly increased activity of plasma acid hydrolases;Den Tandt;J Lab Clin Med,1974

4. Screening for mucolipidosis;Kelly;Lancet,1974

5. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts;Leroy;Science,1967

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1. Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant;Molecular Genetics and Metabolism Reports;2021-06

2. Mucolipidosis 2;Atlas of Genetic Diagnosis and Counseling;2017

3. Mucolipidosis 2;Atlas of Genetic Diagnosis and Counseling;2016

4. Mucolipidosis II;Atlas of Genetic Diagnosis and Counseling;2012

5. Fetal Storage Disorders;Pathology of the Human Placenta;2012

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