scholarly journals New Fabry disease mutation confirms cardiomyopathy aetiology: a case report

2018 ◽  
Vol 2 (4) ◽  
Author(s):  
Sebastian Militaru ◽  
Adrian Saftoiu ◽  
Berthold Streubel ◽  
Ruxandra Jurcut
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Disease Mutation

Female child with Fabry disease and two other genetic diseases, spherocytosis, and congenital hypothyroidism, A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S24
Author(s):  
Magdalena Cerón-Rodriguez ◽  
Daniela Castillo-García ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Patricia Baeza-Capetillo ◽  
Jesús Aguirre-Hernández
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Congenital Hypothyroidism ◽  
Genetic Diseases ◽  
Female Child

scholarly journals FABRY DISEASE, FAMILY CASE REPORT

2019 ◽  
Author(s):  
LIZETH CHAPARRO DEL PORTILLO ◽  
JÚLIA YONESHIGUE LARANJA DE OLIVEIRA ◽  
HANY KELLY ARAUJO CRUZ ◽  
BRUNO BORDALO CORRÊA ◽  
VIVIAN MABEL ORSI DORADO ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Family Case ◽  
Disease Family

scholarly journals Fabry disease: A case report and algorithmic approach to angiokeratomas

TURKDERM ◽  
2014 ◽  
Vol 48 (S2) ◽  
pp. 97-100 ◽  
Author(s):  
Aslı Aksu Çerman ◽  
Janset Erkul Arıcı ◽  
İlknur Kıvanç Altunay ◽  
Cuyan Demirkesen ◽  
Nihal Aslı Küçükünal
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Algorithmic Approach

scholarly journals Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Filippo Pinto e Vairo ◽  
Pavel N. Pichurin ◽  
Fernando C. Fervenza ◽  
Samih H. Nasr ◽  
Kevin Mills ◽  
...  
Keyword(s):  
Case Report ◽  
Renal Disease ◽  
Fabry Disease ◽  
Kidney Biopsy

Diagnosis of Fabry disease in a patient with end stage renal disease on hemodialysis: A case report

2018 ◽  
Vol 123 (2) ◽  
pp. S77-S78
Author(s):  
Jin Sug Kim ◽  
Yu Ho Lee ◽  
Su Woong Jung ◽  
Kyung Hwan Jeong ◽  
Tae Won Lee ◽  
...  
Keyword(s):  
Case Report ◽  
Renal Disease ◽  
Fabry Disease ◽  
End Stage Renal Disease ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Hasani Hewavitharana ◽  
Eresha Jasinge ◽  
Hiranya Abeysekera ◽  
Jithangi Wanigasinghe
Keyword(s):  
Case Report ◽  
Sri Lanka ◽  
Fabry Disease ◽  
Cornea Verticillata

Fabry disease in two brothers with proteinuria: A case report and Fabry disease review

2020 ◽  
Vol 93 (6) ◽  
pp. 294-299
Author(s):  
Brian E. Jones ◽  
Blake Shusterman
Keyword(s):  
Case Report ◽  
Fabry Disease

The frequency of Fabry disease with the E66Q variant in the ?-galactosidase A gene in Japanese dialysis patients: a case report and a literature review

2012 ◽  
Vol 78 (09) ◽  
pp. 224-229 ◽  
Author(s):  
Y. Kikumoto ◽  
H. Sugiyama ◽  
H. Morinaga ◽  
T. Inoue ◽  
K. Takiue ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Fabry Disease ◽  
Dialysis Patients

Hemizygous Fabry disease associated with membranous nephropathy: A rare case report

2018 ◽  
Vol 90 (3) ◽  
pp. 227-231 ◽  
Author(s):  
Wenyan Zhou ◽  
Zhaohui Ni ◽  
Minfang Zhang
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Membranous Nephropathy ◽  
Rare Case ◽  
Rare Case Report
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