Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II)
- 1 August 1975
- journal article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 87 (2) , 221-226
- https://doi.org/10.1016/s0022-3476(75)80583-x
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Genetic heterogeneity in multiple lysosomalhydrolase deficiencyThe Journal of Pediatrics, 1974
- Lymphocytic inclusions in I-cell diseaseThe Journal of Pediatrics, 1974
- AMNIOTIC-FLUID PROTEINSThe Lancet, 1974
- Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast CellsPediatric Research, 1973
- Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parentsClinical Genetics, 1973
- Elevated activity of lysosomal enzymes in amniotic fluid of a fetus with mucolipidosis II (I-cell disease)Clinica Chimica Acta; International Journal of Clinical Chemistry, 1973
- I-Cell Disease: Biochemical StudiesPediatric Research, 1972
- Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue cultureThe Journal of Pediatrics, 1971
- I-CELL DISEASE : MULTIPLE LYSOSOMAL-ENZYME DEFECTThe Lancet, 1971
- Mutant Enzymatic and Cytological Phenotypes in Cultured Human FibroblastsScience, 1967