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Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy

Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipid catabolism caused by deficient activity of the lysosomal hydrolase alpha-galactosidase A (ɑ-Gal A). A 20-year-old woman was referred to our hospital because of proteinuria and persistent macroscopic hematuria. Based on...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:CEN Case Rep
Asıl Yazarlar: Iwafuchi, Yoichi, Maruyama, Hiroki, Morioka, Tetsuo, Noda, Seiko, Nagata, Hiroshi, Oyama, Yuko, Narita, Ichiei
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Singapore 2017
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5694414/
https://ncbi.nlm.nih.gov/pubmed/29019163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-017-0277-y
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