Results 131 to 140 of about 9,057,553 (322)

Laboratory and clinical genetic Counselor's perspectives on the reporting of personal health risks on carrier screening reports

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Carrier screening estimates the risk for an individual to be a carrier of an autosomal recessive or X‐linked genetic condition. Incidentally, carrier screening may reveal personal health risks (PHR). Carrier results with PHR are “heterozygous variants which carry health risks similar to or unrelated to the disease caused by variants in a ...
Sydney Hubbard, Kristen Fishler, Alexandra Hankewycz   +2 more
wiley   +1 more source

Vesivirus 2117 capsids more closely resemble sapovirus and lagovirus particles than other known vesivirus structures [PDF]

, 2017
Vesivirus 2117 is an adventitious agent that in 2009, was identified as a contaminant of CHO cells propagated in bioreactors at a pharmaceutical manufacturing plant belonging to Genzyme.
Bhella, David, Carneiro, Daniel G., Conley, Michaela, Emmott, Edward, Goodfellow, Ian G., Hansman, Grant S., Murata, Kazuyoshi, Orton, Richard, Taylor, David   +8 more
core   +1 more source

SGLT‐2 inhibitors for cardiac amyloidosis: Hype or hope?

European Journal of Clinical Investigation, EarlyView.
Flavio Tangianu, Eleonora Nicolini, Francesco Dentali, Aldo Bonaventura   +3 more
wiley   +1 more source

Free‐Breathing Ungated Radial Simultaneous Multi‐Slice Cardiac T1 Mapping

Journal of Magnetic Resonance Imaging, Volume 61, Issue 6, Page 2587-2600, June 2025.
Background Modified Look‐Locker imaging (MOLLI) T1 mapping sequences are acquired during breath‐holding and require ECG gating with consistent R‐R intervals, which is problematic for patients with atrial fibrillation (AF). Consequently, there is a need for a free‐breathing and ungated framework for cardiac T1 mapping.
Johnathan V. Le, Jason K. Mendes, Konstantinos Sideris, Erik Bieging, Spencer Carter, Josef Stehlik, Edward V. R. DiBella, Ganesh Adluru   +7 more
wiley   +1 more source

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal of Molecular Sciences, 2018
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A).
G. Duro, C. Zizzo, G. Cammarata, A. Burlina, A. Burlina, G. Polo, Simone Scalia, Roberta Oliveri, S. Sciarrino, Daniele Francofonte, R. Alessandro, A. Pisani, G. Palladino, R. Napoletano, M. Tenuta, D. Masarone, G. Limongelli, E. Riccio, A. Frustaci, C. Chimenti, C. Ferri, F. Pieruzzi, M. Pieroni, M. Spada, C. Castana, M. Caserta, I. Monte, M. Rodolico, S. Feriozzi, Y. Battaglia, L. Amico, M. Losi, C. Autore, M. Lombardi, C. Zoccali, A. Testa, M. Postorino, R. Mignani, E. Zachara, Antonello Giordano, P. Colomba   +40 more
semanticscholar   +1 more source

Arrhythmogenesis in Fabry Disease

Current Cardiology Reports
Abstract Purpose of Review Fabry Disease (FD) is a rare lysosomal storage disorder characterised by multiorgan accumulation of glycosphingolipid due to deficiency in the enzyme α-galactosidase A. Cardiac sphingolipid accumulation triggers various types of arrhythmias, predominantly ventricular arrhythmia, bradyarrhythmia,
Roy, A, Cumberland, MJ, O'Shea, C, Holmes, A, Kalla, M, Gehmlich, K, Geberhiwot, T, Steeds, RP   +7 more
openaire   +2 more sources

Evaluating Quality of Care Indicators for Metastasis Development in Cutaneous Squamous Cell Carcinoma Among Mexican Renal Transplant Recipients

JEADV Clinical Practice, Volume 4, Issue 2, Page 499-502, June 2025.
ABSTRACT Background Cutaneous squamous cell carcinoma (cSCC) poses a high metastatic risk in immunosuppressed individuals, especially organ transplant recipients (OTRs). Despite international guidelines recognizing these risks, no universal standard exists for assessing quality of care (QoC) in cSCC.
Andrea Malagon‐Liceaga, Jesus Alejandro Romero‐Aguila, Bonfilio Roberto Lazcano‐Prieto, Fanny Carolina Lopez‐Jimenez, Rebeca Palafox‐Romo, Samantha Paola Bermudez Rodriguez, Verónica Monserrat Díaz Sanchez, Judith Dominguez‐Cherit, Silvia Mendez‐Flores, Ana Lilia Ruelas‐Villavicencio   +9 more
wiley   +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

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

Clinical and Pathological Findings in Women with Fabry Disease [PDF]

, 2009
Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Chan, KH, Chu, ACY, Ho, JWM, Ho, PWL, Ho, SL, Kung, MHW, Kwok, KHH, Liu, HF, Ramsden, David   +8 more
core   +1 more source