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Prenatal diagnosis of I-cell disease

✍ Scribed by Matsuda, Ichiro ;Arashima, Shinichiro ;Mitsuyama, Takashi ;Oka, Yogo ;Ikeuchi, Tatsuo ;Kaneko, Yasuhiko ;Ishikawa, Mutsuo

Book ID: 104697092
Publisher: Springer-Verlag
Year: 1975
Weight: 392 KB
Volume: 30
Category: Article
ISSN: 0018-7348
DOI: 10.1007/bf00273633

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✦ Synopsis

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.

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