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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:CEN Case Rep
Main Authors: Iwafuchi, Yoichi, Maruyama, Hiroki, Morioka, Tetsuo, Noda, Seiko, Nagata, Hiroshi, Oyama, Yuko, Narita, Ichiei
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Singapore 2017
Assuntos:
Case Report
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados