Results 131 to 140 of about 9,399,207 (308)

#3394 THE VALUE OF ADVANCED CARDIAC MAGNETIC RESONANCE IN DETECTING THE CHARACTERISTICS OF CARDIAC INVOLVEMENT IN ANDERSON-FABRY DISEASE [PDF]

, 2023
Junlan Yang, Xiaoliang Zhang
openalex   +1 more source

Enzyme Replacement Therapy Clears Gb3 Deposits from a Podocyte Cell Culture Model of Fabry Disease but Fails to Restore Altered Cellular Signaling.

Cellular Physiology and Biochemistry, 2019
BACKGROUND/AIMS Fabry disease (FD) is a lysosomal storage disorder characterized by impaired alpha-galactosidase A (α-Gal A) enzyme activity due to mutations in the GLA gene. While virtually all tissues are affected, renal damage is particularly critical
Fabian Braun, Linda Blomberg, S. Brodesser, M. Liebau, B. Schermer, T. Benzing, C. Kurschat   +6 more
semanticscholar   +1 more source

Come from away: Reconstructing a long‐range migratory flight of spruce budworm moths to Newfoundland, Canada Venues de loin : reconstitution d'un vol migratoire de longue distance de tordeuses des bourgeons de l'épinette vers Terre‐Neuve, au Canada

Ecological Entomology, Volume 51, Issue 1, Page 41-58, February 2026.
Lagrangian atmospheric models were used in conjunction with ecophysiological factors to reconstruct the path and meteorological conditions of a long‐range migration flight of spruce budworm moths to Newfoundland, Canada. Moths travelled under high winds and warm temperatures that favoured their migratory flight until encountering cooler temperatures ...
Philippe Barnéoud, Jennie Pearce, Alain Malo, Jean‐Noël Candau   +3 more
wiley   +1 more source

Quantitative Myocardial Perfusion in Fabry Disease.

Circulation Cardiovascular Imaging, 2019
BACKGROUND Fabry disease (FD) is an X-linked lysosomal storage disease resulting in tissue accumulation of sphingolipids. Key myocardial processes that lead to adverse outcomes in FD include storage, hypertrophy, inflammation, and fibrosis.
K. Knott, J. Augusto, S. Nordin, R. Kozor, C. Camaioni, H. Xue, R. Hughes, C. Manisty, L. Brown, P. Kellman, U. Ramaswami, D. Hughes, S. Plein, J. Moon   +13 more
semanticscholar   +1 more source

Increased prevalence of peripheral vestibular disorder among patients with Fabry disease

Orphanet Journal of Rare Diseases
Background Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series.
Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen, Herng-Ching Lin   +4 more
doaj   +1 more source

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review [PDF]

, 2010
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II).
Ida VD Schwartz, Louise LC Pinto, Roberto Giugliani, Taiane A Vieira   +3 more
core   +2 more sources

Pulmonary hypertension in adolescents with sickle cell disease [PDF]

, 2016
Sickle cell disease consists of a group of disorders that have a similar mutation in at least one of the beta-globin chains of hemoglobin. This results in a change of the hemoglobin to sickle shaped cells when in the deoxygenated state.
Akinyemi, Katherine
core   +1 more source

Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease

Stem Cell Research
Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA).
Zihan Li, Jing Luan, Yali Yang, Guowei Li, Zhouhui Hu, Che Yu, Yazhou Cui, Jinxiang Han   +7 more
doaj   +1 more source

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.

Molecular Genetics and Metabolism, 2022
D. Germain, G. Altarescu, R. Barriales-Villa, R. Mignani, K. Pawlaczyk, F. Pieruzzi, W. Terryn, B. Vujkovac, A. Ortiz   +8 more
semanticscholar   +1 more source

Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Genetics in Medicine, 2018
Plasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.
H. Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, K. Murayama, Takeshi Inoue, S. Yamamoto, K. Sugimura, Koichi Tamita, T. Kawasaki, J. Kajihara, Akifumi Onishi, H. Sugiyama, Teiko Sakai, I. Murata, Takamasa Oda, Shigeru Toyoda, K. Hanawa, Takeo Fujimura, S. Ura, M. Matsumura, H. Takano, Satoshi Yamashita, Gaku Matsukura, R. Tazawa, T. Shiga, M. Ebato, H. Satoh, S. Ishii   +30 more
semanticscholar   +1 more source