Results 31 to 40 of about 5,245,219 (176)

Stroke and Chronic Kidney Disease in Fabry Disease [PDF]

, 2021
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene leading to a deficiency of the enzyme alpha-galactosidase A (α-Gal A). Multiple organ systems are implicated in Fabry disease, most severely the cardiac,
Tapia, Daisy, Kimonis, Virginia, Daisy Tapia, Virginia Kimonis   +3 more
core   +1 more source

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

PLoS ONE, 2013
Fabry disease is an X-linked genetic disorder caused by defects in the α-galactosidase A (GLA) gene, and heterogeneous mutations lead to quantitative and/or qualitative defects in GLA protein in male patients with Fabry disease.
Sachie Nakano, Yoshihito Morizane, Noriko Makisaka, Toshihiro Suzuki, Tadayasu Togawa, Takahiro Tsukimura, Ikuo Kawashima, Hitoshi Sakuraba, Futoshi Shibasaki   +8 more
doaj   +1 more source

Self-coherent optical transmission using a narrow linewidth tunable slotted fabry-perot laser [PDF]

, 2010
A narrow linewidth slotted Fabry-Perot laser has been employed in a self-coherent optical transmission system. A comparison of the system performance of the tunable slotted laser with a SG-DBR laser has also been ...
Anandarajah, Prince M., Smyth, Frank, K. Shi, Roycroft, Brendan, Corbett, Brian, F. Smyth, B. Roycroft, P. Anandarajah, Reid, Douglas A., Barry, Liam P., D. Reid, B. Corbett, F. H. Peters, Shi, Kai, Peters, F.H., R. Maher, L. P. Barry, Maher, Robert D.   +17 more
core   +3 more sources

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents

Orphanet Journal of Rare Diseases
Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal complaints, and dermatologic ...
Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Llòria, Irene Koulinska, Meghan McGee, Dawn Laney   +8 more
doaj   +1 more source

Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardiovascular disease, stroke, end ...
Ben Haycroft, Abigail Stevenson, Richard Stork, Stuart Gaffney, Philip Morgan, Karl Patterson, Ana Jovanovic   +6 more
doaj   +1 more source

Screening of bispecific antibodies during single cell cloning of recombinant Chinese hamster ovary cell lines to improve titer and product quality

Biotechnology Progress, EarlyView.
Abstract Development of therapeutic bispecific antibodies (BsAbs) poses significant manufacturability challenges associated with correct chain pairing and an increased diversity of impurities. Here we address this with a product quality assessment during cell line development (CLD), forgoing the need for genetic characterization during cell line ...
Molly Robinson, Jessica Willmott, Holly Corrigall, Daniela Lega, Joseph Stirling, Vithiya Vimalraj, Mitul Patel, Robyn Emmins   +7 more
wiley   +1 more source

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Orphanet Journal of Rare Diseases
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases.
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar   +12 more
doaj   +1 more source

Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report

Türk Kardiyoloji Derneği Arşivi, 2016
Fabry disease is the second most common inherited (X-linked recessive) lysosomal storage disease associated with multiple organ involvement. Cardiac involvement of Fabry disease varies.
Ahmet Taha Alper, Adnan Kaya, Ahmet İlker Tekkesin, Ahmet Oz   +3 more
doaj   +1 more source

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +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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