期刊
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
卷 23, 期 10, 页码 1253-1256出版社
TAYLOR & FRANCIS LTD
DOI: 10.3109/14767050903580391
关键词
Agalsidase; Fabry disease; glycosphingolipid; lysosomal storage disease; pregnancy
Background. Few cases of Fabry disease, an X-linked lysosomal storage disorder, complicating pregnancy are reported. Case. A 36-year-old primigravida with known Fabry disease manifest with acroparesthesias, tinnitus, and hearing loss delivered a healthy unaffected infant at term. Conclusion. A symptomatic Fabry carrier may experience an otherwise uncomplicated pregnancy in the absence of vital organ involvement.
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