Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: how to guide the diagnostic strategy? | ORKG Ask

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Diagnostic clues for the diagnosis of nonsarcomeric hypertrophic cardiomyopathy (Phenocopies): Amyloidosis, fabry disease, and mitochondrial disease

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Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

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Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

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Screening in subjects with left ventricular hypertrophy (LVH) reveals a high prevalence of Fabry dis...

Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy

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Ochi, Yuri
Baba, Yuichi
Hirota, Takayoshi
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Higuchi, Koji
Takenaka, Toshihiro
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Togawa, Tadayasu
Tsukimura, Takahiro
Sano, Shigetoshi
Tei, Chuwa
Sakuraba, Hitoshi
Kitaoka, Hiroaki

January 2017

AbstractBackgroundThe prevalence of Fabry disease (FD) in Japanese patients presenting with unexplai...

Diagnostic clues for the diagnosis of nonsarcomeric hypertrophic cardiomyopathy (Phenocopies): Amyloidosis, fabry disease, and mitochondrial disease

Limongelli G.
Masarone D.
Verrengia M.
Gravino R.
Salerno G.
Castelletti S.
Rubino M.
Marrazzo T.
Pisani A.
Cecchi F.
Elliott P.
Pacileo G.

January 2018

Hypertrophic cardiomyopathy (HCM) is the most common known inherited heart disorder, with a prevalen...

Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: how to guide the diagnostic strategy?

Azevedo, Olga
Marques, Nuno
Reis, Liliana
Cruz, Inês
Craveiro, Nuno
Antunes, Hugo
Lourenço, Carolina
Gomes, Renata
Guerreiro, Rui Azevedo
Faria, Ricardo
Sá, Fernando
Lima, Rui
Gaspar, Paulo
Faria, Rui
Miltenberger-Miltenyi, Gabriel
Sousa, Nuno
Cunha, Damião

January 2020

Fabry disease (FD) is a treatable cause of hypertrophic cardiomyopathy (HCM). We aimed to determine ...

Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy

Monserrat, Lorenzo
Gimeno-Blanes, Juan Ramón
Marín, Francisco
Hermida-Prieto, Manuel
García-Honrubia, Antonio
Pérez, Inmaculada
Fernández, Xusto
de Nicolas, Rosario
de la Morena, Gonzalo
Payá, Eduardo
Yagüe, Jordi
Egido, Jesús

December 2007

ObjectivesWe aimed to study the prevalence of Fabry disease (FD) in patients with hypertrophic cardi...

The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey

YORGUN, HİKMET
ÖZPELİT, EBRU
Tufekcioglu, Omaç
Erfidan, Erkan
Uslu Çil, Şefika
Kahveci, Gokhan
GEREDE ULUDAĞ, DEMET MENEKŞE
ERMİŞ, NECİP
Çelik, Ahmet
Eker Akıllı, Rabia
ÖKÇÜN, EMİR ÖZGÜR BARIŞ
ÇAVUŞOĞLU, YÜKSEL

April 2023

BACKGROUND: The present study aimed to identify the frequency of Fabry disease in patients with card...

Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

Smid, B.E.
Tol, L. van der
Cecchi, F.
Elliott, P.M.
Hughes, D.A.
Linthorst, G.E.
Timmermans, J.
Weidemann, F.
West, M.L.
Biegstraaten, M.
Deprez, R.H. Lekanne
Florquin, S.
Postema, P.G.
Tomberli, B.
Wal, A.C. van der
Weerman, M.A. van den Bergh
Hollak, C.E.

January 2014

BACKGROUND: Screening in subjects with left ventricular hypertrophy (LVH) reveals a high prevalence ...

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

Smid, B. E.
van der Tol, L.
Cecchi, F.
Elliott, P. M.
Hughes, D. A.
Linthorst, G. E.
Timmermans, J.
Weidemann, F.
West, M. L.
Biegstraaten, M.
Lekanne Deprez, R. H.
Florquin, S.
Postema, P. G.
Tomberli, B.
van der Wal, A. C.
van den Bergh Weerman, M. A.
Hollak, C. E.

January 2014

Screening in subjects with left ventricular hypertrophy (LVH) reveals a high prevalence of Fabry dis...

Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy

Kubo, Toru
Ochi, Yuri
Baba, Yuichi
Hirota, Takayoshi
Tanioka, Katsutoshi
Yamasaki, Naohito
Yoshimitsu, Makoto
Higuchi, Koji
Takenaka, Toshihiro
Nakajima, Kimiko
Togawa, Tadayasu
Tsukimura, Takahiro
Sano, Shigetoshi
Tei, Chuwa
Sakuraba, Hitoshi
Kitaoka, Hiroaki

January 2017

AbstractBackgroundThe prevalence of Fabry disease (FD) in Japanese patients presenting with unexplai...

Diagnostic clues for the diagnosis of nonsarcomeric hypertrophic cardiomyopathy (Phenocopies): Amyloidosis, fabry disease, and mitochondrial disease

Limongelli G.
Masarone D.
Verrengia M.
Gravino R.
Salerno G.
Castelletti S.
Rubino M.
Marrazzo T.
Pisani A.
Cecchi F.
Elliott P.
Pacileo G.

January 2018

Hypertrophic cardiomyopathy (HCM) is the most common known inherited heart disorder, with a prevalen...