相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review
Fabio Caputo et al.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2021)
Fabry disease screening in high-risk populations in Japan: a nationwide study
Shinichiro Yoshida et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Newborn screening for Fabry disease in the western region of Japan
Takaaki Sawada et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2020)
Genetics and Gene Therapy of Anderson-fabry Disease
Irene Simonetta et al.
CURRENT GENE THERAPY (2018)
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Giovanni Duro et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Raphael Schiffmann et al.
KIDNEY INTERNATIONAL (2017)
Fabry disease due to D313Y and novel GLA mutations
Konstantinos Koulousios et al.
BMJ OPEN (2017)
Pathomechanisms of renal Fabry disease
Oystein Eikrem et al.
CELL AND TISSUE RESEARCH (2017)
The coincidence of IgA nephropathy and Fabry disease
Dita Maixnerova et al.
BMC NEPHROLOGY (2013)
A Case of Fabry's Disease with Congenital Agammaglobulinemia
Ki-Yeol Lee et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2011)
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
Beom Hee Lee et al.
JOURNAL OF HUMAN GENETICS (2010)
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN)
Agnes B. Fogo et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2010)
Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry
Stephen Waldek et al.
GENETICS IN MEDICINE (2009)
Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria
Camilla Tondel et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2008)
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma
R Froissart et al.
MOLECULAR GENETICS AND METABOLISM (2003)
分享论文
