Literature DB >> 30474596

Identification of new α-galactosidase A mutation responsible for Fabry disease: A case report.

Yuri Battaglia, Simone Scalia, Rosa Rinaldi, Alda Storari, Renzo Mignani, Domenico Russo, Giovanni Duro.   

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Year:  2019        PMID： 30474596     DOI： 10.5414/CN109501

Source DB:  PubMed          Journal:  Clin Nephrol        ISSN： 0301-0430            Impact factor:   0.975


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  2 in total

1.  Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Authors:  Agnė Čerkauskaitė; Rimantė Čerkauskienė; Marius Miglinas; Arvydas Laurinavičius; Can Ding; Arndt Rolfs; Lina Vencevičienė; Jūratė Barysienė; Edita Kazėnaitė; Eglė Sadauskienė
Journal:  Medicina (Kaunas)       Date:  2019-05-07       Impact factor: 2.430

Review 2.  Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.

Authors:  Yuri Battaglia; Fulvio Fiorini; Cristiano Azzini; Pasquale Esposito; Alessandro De Vito; Antonio Granata; Alda Storari; Renzo Mignani
Journal:  Front Med (Lausanne)       Date:  2021-02-09
  2 in total

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