scholarly journals Description of a new mutation in a female patient with Fabry disease

2011 ◽  
Vol 30 (10) ◽  
pp. 789-793
Author(s):  
Emanuel Correia ◽  
Joana Vidinha ◽  
Bruno Rodrigues ◽  
Luís Santos ◽  
Davide Moreira ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Female Patient ◽  
New Mutation

scholarly journals New mutation in Fabry disease: c.448delG, first phenotypic description

2021 ◽  
Vol 27 ◽  
pp. 100708
Author(s):  
Esteban Calabrese ◽  
Guillermo Rodriguez Botta ◽  
Dra Paula Rosenfeld
Keyword(s):  
Fabry Disease ◽  
New Mutation

Fabry disease presentation in a heterozygote female patient

2018 ◽  
Vol 123 (2) ◽  
pp. S123
Author(s):  
Prerna Rastogi ◽  
Myrl Holida ◽  
Christie Thomas
Keyword(s):  
Fabry Disease ◽  
Female Patient

scholarly journals SP015SUCCESSFUL OUTCOME OF PREGNANCY IN A SEVERLY AFFECTED FEMALE PATIENT WITH FABRY DISEASE COMPLICATED BY PRE-ECLAMPSIA: CLINICAL MANAGEMENT AND PLACENTAL EXAMINATION

2018 ◽  
Vol 33 (suppl_1) ◽  
pp. i351-i352
Author(s):  
Christoffer Madsen ◽  
Erik Christensen ◽  
Rikke Nielsen ◽  
Helle Mogensen ◽  
Ã…se Rasmussen ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Female Patient ◽  
Clinical Management

scholarly journals Diffuse thin glomerular basement membrane in association with Fabry disease in a Chinese female patient

2011 ◽  
Vol 26 (11) ◽  
pp. 3813-3816 ◽  
Author(s):  
Z.-y. Cai ◽  
Y.-k. Zhang ◽  
S.-x. Wang ◽  
Q.-y. Fang ◽  
Y.-q. Chen
Keyword(s):  
Basement Membrane ◽  
Fabry Disease ◽  
Female Patient ◽  
Glomerular Basement Membrane

Case report: A 49y-old female patient with MEN 1 syndrome shows a new mutation in the MEN 1 gene

2007 ◽  
Vol 115 (S 1) ◽  
Author(s):  
E Spilcke-Liss ◽  
S Rondot ◽  
S Vogelgesang ◽  
H Wallaschofski
Keyword(s):  
Case Report ◽  
Female Patient ◽  
New Mutation ◽  
Men 1

A case of phenotypic Anderson-Fabry disease in a female patient

2018 ◽  
Vol 177 (9) ◽  
Author(s):  
Costantino Mancusi ◽  
Maria V. Carlino ◽  
Alfonso Sforza ◽  
Maria I. Arnone ◽  
Giovanni Albano ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Female Patient

Unusual renal presentation of Fabry disease in a female patient

2009 ◽  
Vol 5 (6) ◽  
pp. 349-354 ◽  
Author(s):  
Cataldo Abaterusso ◽  
Vincenzo De Biase ◽  
Alessandro Salviati ◽  
Antonia Fabris ◽  
Deborah Millardi ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Female Patient

scholarly journals A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

2012 ◽  
Vol 12 (1) ◽  
Author(s):  
Antonio Pisani ◽  
Massimo Imbriaco ◽  
Carmela Zizzo ◽  
Giuseppe Albeggiani ◽  
Paolo Colomba ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Female Patient ◽  
Gla Gene

Recurrent brief depression in a female patient with Fabry disease

2006 ◽  
Vol 8 (4) ◽  
pp. 418-419 ◽  
Author(s):  
Matthias J Muller ◽  
Andreas Fellgiebel ◽  
Armin Scheurich ◽  
Catharina Whybra ◽  
Michael Beck ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Female Patient ◽  
Recurrent Brief Depression

scholarly journals A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

2017 ◽  
Vol 4 (1) ◽  
Author(s):  
Yasutsugu Chinen ◽  
Sadao Nakamura ◽  
Tomohide Yoshida ◽  
Hiroki Maruyama ◽  
Kimitoshi Nakamura
Keyword(s):  
Newborn Screening ◽  
Fabry Disease ◽  
New Mutation
Sign in / Sign up

Export Citation Format

Share Document