Results 231 to 240 of about 82,705 (288)

A High-Aperture-Efficiency Fabry-Perot Antenna with Broadband Out-of-Band RCS Reduction Enabled by a Partially Reflective Absorptive Frequency-Selective Surface. [PDF]

Micromachines (Basel)
Jiang B, Cheng YF, Gong D, Wang Y, Xiong J, Yu Y.   +5 more
europepmc   +1 more source

Proxy patients' perceptions of genetic counselor empathy responses. [PDF]

J Community Genet
Bouchard J, MacFarlane I, Veach PM, Baker JA, Redlinger-Grosse K.   +4 more
europepmc   +1 more source

Functional Hyperthermia Presenting as Fever of Unknown Origin With Normal Inflammatory Markers in an Adolescent

Journal of General and Family Medicine, Volume 27, Issue 5, September 2026.
Ryuichi Minoda Sada, Hirofumi Miyake, Hiroyuki Akebo, Kazuhiro Hatta   +3 more
wiley   +1 more source

Renal involvement in Fabry disease from Tunisian families: Six case reports. [PDF]

World J Nephrol
Tlili S, Ghabi H, Mami I, Ben Hmida F, Rais L, Zouaghi MK.   +5 more
europepmc   +1 more source

Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group. [PDF]

Orphanet J Rare Dis
Mancuso M, Burlina A, Ulivi L, Cocozza S, Bersano A, Cosottini M, Donadio V, Giordano A, Liguori R, Manara R, Pichiecchio A, Romani I, Siniscalchi A, Tenuta M, Cianci V, Tuttolomondo A.   +15 more
europepmc   +1 more source

Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.

Public Health Genomics
Furuta Y, Agrawal NS, Owen NN, Bastarache LA, Shyr C, Geiger HU, Ponce E, Lauderdale CJ, Carter CR, Morgan KA, Hamid R, Phillips Iii JA, Tinker RJ.   +12 more
europepmc   +1 more source

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Fabry's disease

Journal of the Neurological Sciences, 2014
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions.
Rima, El-Abassi, Divya, Singhal, John D, England   +2 more
openaire   +2 more sources

Fabry disease

Journal of Echocardiography, 2017
Fabry disease resulting from a deficiency of α-galactosidase A leads to the accumulation of globotriaosylceramide in various organs. Because the disease is an X-linked recessive disorder, males tend to develop more symptoms and more severe symptoms than females.
Toshinori Yuasa, Toshihiro Takenaka, Koji Higuchi, Nami Uchiyama, Yoshihisa Horizoe, Hideto Cyaen, Naoko Mizukami, Kunitsugu Takasaki, Akira Kisanuki, Masaaki Miyata, Mitsuru Ohishi   +10 more
openaire   +2 more sources

Fabry disease

Current Opinion in Neurology, 2011
This review discusses the literature on Fabry disease mainly in the domain of neurology with special attention to recent advancement.Fabry neuropathy is known as a length-dependent peripheral neuropathy affecting mainly the small myelinated (Aδ) fibers and unmyelinated (C) fibers.
openaire   +3 more sources