Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

Gene ◽  
2013 ◽  
Vol 527 (1) ◽  
pp. 42-47 ◽  
Author(s):  
Ilyas Okur ◽  
Fatih Ezgu ◽  
Gursel Biberoglu ◽  
Leyla Tumer ◽  
Yasemin Erten ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Fabry Disease ◽  
Novel Mutation

Hyperferritinemia in Fabry disease: Higher serum TNF-α levels and elevated frequency of hyperlipidemia, chronic renal failure and heart failure

2020 ◽  
Vol 129 (2) ◽  
pp. S137-S138
Author(s):  
Nilton S. Rosa Neto ◽  
Judith C.B. Bento ◽  
Valeria F. Caparbo ◽  
Rosa Maria R. Pereira
Keyword(s):  
Heart Failure ◽  
Renal Failure ◽  
Chronic Renal Failure ◽  
Fabry Disease ◽  
Tnf Α ◽  
Elevated Frequency

Chronic renal failure in a boy with classic Bartter’s syndrome due to a novel mutation in CLCNKB coding for the chloride channel

2008 ◽  
Vol 168 (9) ◽  
pp. 1129-1133 ◽  
Author(s):  
Chien-Ming Lin ◽  
Jeng-Daw Tsai ◽  
Yi-Fen Lo ◽  
Ming-Tso Yan ◽  
Sung-Sen Yang ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Chloride Channel ◽  
Novel Mutation ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome

Chronic Renal Failure and Proteinuria in Adulthood: Fabry Disease Predominantly Affecting the Kidneys

2005 ◽  
Vol 45 (5) ◽  
pp. e82-e89 ◽  
Author(s):  
Markus Cybulla ◽  
Ellen Schaefer ◽  
Susanne Wendt ◽  
Hao Ling ◽  
Stefan M. Kröber ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Fabry Disease

scholarly journals End-stage renal disease in patients with Fabry disease

2020 ◽  
Vol 29 (4) ◽  
pp. 36-43
Author(s):  
E. Tao ◽  
A. Moiseev ◽  
N. Bulanov ◽  
A. Kuchieva ◽  
E. Mershina ◽  
...  
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Renal Disease ◽  
Fabry Disease ◽  
Clinical Features ◽  
End Stage Renal Disease ◽  
Factors Associated ◽  
Stage Renal Disease ◽  
End Stage

To compare clinical features and outcomes of Fabry disease (FD) in patients with and without end-stage renal disease(ESRD) and to identify factors associated with developementof terminal chronic renal failure.

Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease

2004 ◽  
Vol 24 (5) ◽  
pp. 532-536 ◽  
Author(s):  
Adalberto Sessa ◽  
Mietta Meroni ◽  
Graziana Battini ◽  
Marco Righetti ◽  
Renzo Mignani
Keyword(s):  
Renal Failure ◽  
Renal Transplantation ◽  
Chronic Renal Failure ◽  
Fabry Disease

scholarly journals Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene

Cureus ◽  
2020 ◽  
Author(s):  
Salem Gaballa ◽  
Avan AlJaf ◽  
Jane Lindsay ◽  
Kashyap Patel ◽  
Kyaw M Hlaing
Keyword(s):  
Renal Failure ◽  
Fabry Disease ◽  
Novel Mutation ◽  
Gla Gene
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