Results 41 to 50 of about 4,991,114 (167)

Elderly Brothers With Fabry Disease Exhibiting Cardiac and Renal Manifestations

Annals of Internal Medicine: Clinical Cases, 2023
Fabry disease (FD) is an X-linked disorder resulting in α-galactosidase A activity deficiency. Late-onset FD, especially in elderly patients without classical symptoms, is difficult to diagnose, with manifestations that resemble natural aging.
Keiko Tanaka, Hitoshi Sugiyama, Hiroshi Morinaga, Akifumi Onishi, Yuzuki Kano, Hidemi Takeuchi, Kenji Tsuji, Motoki Kubo, Katsuyuki Tanabe, Haruhito A. Uchida, Kazufumi Nakamura, Jun Wada   +11 more
doaj   +1 more source

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]

, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Tei, C, B. Sachdev, Takenaka, T, W. J. Mckenna, Sachdev, B, H. Teraguchi, Elliott, PM, Teraguchi, H, C. Tei, P. Lee, T. Takenaka, McKenna, WJ, Lee, P, Hypertrophic Cardiomyopathy   +13 more
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Gene Editing in Fabry Disease: A Strategy Delineation

, 2022
Oral presentation by first authorThe use of iPSCs, in the last years became wide spread, even in our group at INSA, the use of iPSCs to develop models of disease is now envisaged for various Lysosomal Storage Diseases.
Moreira, Luciana, Amaral, Olga, Duarte, Ana J., Ribeiro, Diogo   +3 more
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Fabry Disease: The Current Treatment Landscape

, 2021
Fabry disease (FD) is a rare X-linked lysosomal storage disease based on a deficiency of α-galactosidase A (AGAL) caused by mutations in the α-galactosidase A gene (GLA). The lysosomal accumulation of glycosphingolipids, especially globotriaosylceramide (
Malte Lenders, Lenders, Malte, Eva Brand, Brand, Eva   +3 more
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The Effect of Fabry Disease Therapy on Bone Mineral Density

Diseases
Fabry disease (FD) is an X-linked lysosomal storage disorder, characterised by the cellular accumulation of globotriaosylceramide due to impaired alpha-galactosidase A enzyme activity.
Tess Aitken, Mark K. Tiong, Andrew S. Talbot, Irene Ruderman, Kathleen M. Nicholls   +4 more
doaj   +1 more source

Rastreio de doença de Fabry em doentes com não compactação do ventrículo esquerdo

, 2019
It is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified ...
Craveiro, Nuno, Miltenberger-Miltenyi, Gabriel, Reis, Liliana, Guerreiro, Rui Azevedo, Antunes, Hugo, Sousa, Nuno, Azevedo, Olga, Pereira, Ana Rita, Cunha, Damião, Marques, Nuno, Pontes dos Santos, Rui   +10 more
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Long-Term Outcomes of Kidney Transplantation in Fabry Disease [PDF]

, 2018
BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene that obliterate or markedly reduce α-galactosidase A activity.
Mueller, Thomas F, Müller, Thomas F; https://orcid.org/, Sima Canaan-Kühl, Barbey, F., Desnick, R.J., Flammer, A.J., Frédéric Barbey, Flammer, Andreas J, Thomas F. Mueller, Mueller, T.F., Uyen Huynh-Do, Ersözlü, Sara, Huynh-Do, Uyen, Stefan Schaub, Canaan-Kühl, Sima, Albina Nowak, Huynh-Do, U., Robert J. Desnick, Schaub, Stefan, Nowak, A., Desnick, Robert J, Barbey, Frédéric, Andreas J. Flammer, Ersözlü, S., Nowak, Albina, Vera Genitsch, Cheetham, Marcus, Cheetham, M., Sara Ersözlü, Genitsch, Vera, Schaub, S., Marcus Cheetham, Canaan-Kühl, S., Genitsch, V.   +33 more
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Multiple phenotypic domains of fabry disease and their relevance for establishing genotype-phenotype correlations [PDF]

, 2019
Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient a-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene.
Oliveira, JP, Ferreira, S
core   +1 more source

The prevalence of Fabry disease in a statewide chronic kidney disease cohort – Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study

BMC Nephrology, 2022
Background Prevalence of Fabry disease amongst Chronic Kidney Disease (CKD) patients on haemodialysis has been shown to be approximately 0.2%. Methods We undertook a cross-sectional study employing a cascade screening strategy for Fabry Disease amongst ...
Andrew Mallett, Phoebe Jane Kearey, Anne Cameron, Helen G. Healy, Charles Denaro, Mark Thomas, Vincent W. Lee, Samantha Louise Stark, Maria Fuller, Zaimin Wang, Wendy E. Hoy   +10 more
doaj   +1 more source

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

, 2012
Isolated angiokeratomas are common benign cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse angiokeratomas should alert the physician to a possible diagnosis of Fabry disease, a rare X-linked lysosomal storage
the Interdisciplinary Study Group on Fabry Disease, Gnarra,M, Aspite,N, Cardinali,G, Zampetti,A, BONGIORNO, Maria Rita, Manco,S, Morrone,A, Feliciani C., Linder,D, Parini,R, Antuzzi,D, O.r.t.e.u.,.C. H., Kovacs,D   +13 more
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