Prenatal diagnosis of I-cell disease
| Autor: | Yasuhiko Kaneko, Shinichiro Arashima, Tatsuo Ikeuchi, Mutsuo Ishikawa, Yogo Oka, Takashi Mitsuyama, Ichiro Matsuda |
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| Rok vydání: | 1975 |
| Předmět: |
Adult
medicine.medical_specialty Amniotic fluid Cytoplasmic inclusion Acid Phosphatase Prenatal diagnosis Disaccharidases Lipidoses Andrology Pregnancy Internal medicine Genetics medicine Humans Genetics (clinical) Arylsulfatases Glucuronidase Inclusion Bodies Fetus medicine.diagnostic_test biology Aborted Fetus Acid phosphatase Amniotic Fluid medicine.disease Hexosaminidases Endocrinology Amniocentesis biology.protein Female I-cell disease Lysosomes |
| Zdroj: | Humangenetik. 30:69-73 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00273633 |
| Popis: | A pregnancy from a family in risk of I-cell disease was monitored. The fetus was diagnosed as having I-cell disease based on the findings that (1) lysosomal enzyme activities except for acid phosphatase and alpha glucosidase were clearly elevated in amniotic fluid and were reduced in cultivated amniotic fluid cells, and (2) cytoplasmic inclusions were seen in cultivated amniotic cells by phase contrast microscopy. The accuracy of prediction was confirmed by cultured skin fibroblast of the aborted fetus. |
| Databáze: | OpenAIRE |
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