Results 201 to 210 of about 114,325,321 (319)

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Journal of Medical Genetics, 1996
I. Redonnet-Vernhet, J. K. P. van Amstel, R. Jansen, R. A. Wevers, R. Salvayre, T. Levade   +5 more
semanticscholar   +1 more source

Impact of Inoculation Strategy on Dendrobium nobile Lindl. Rice Wine Quality Through the Use of Saccharomyces cerevisiae FBKL2.8022 and Wickerhamomyces anomalus FBKL2.8023

Food Science &Nutrition, Volume 14, Issue 9, September 2026.
This graphical abstract compares four fermentation strategies for D. nobile rice wine: simultaneous inoculation without D. nobile (SW), simultaneous inoculation with D. nobile (DnSW), sequential inoculation without D. nobile (WS), and sequential inoculation with D. nobile (DnWS). Simultaneous inoculation (SW/DnSW) enhanced volatile compound content (up
Hongling Gan, Guichun Huang, Lin Zhang, Lanyan Cen, Yifeng Dai, Shuyi Qiu, Xiaodan Wang, Chaoyang Wei   +7 more
wiley   +1 more source

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Occurrence of infusion associated reactions and anti‐drug antibodies in enzyme replacement therapy for Fabry disease and the effect of preventive measures. ABSTRACT Male patients with the classical phenotype of Fabry disease (FD) are at risk of developing inhibiting antidrug antibodies (iADAs) against recombinant α‐galactosidase‐A, administered in the ...
Maud Janssens, Sanne J. van der Veen, Laura van Dussen, André B. P. van Kuilenburg, Marion M. M. G. Brands, Mirjam Langeveld   +5 more
wiley   +1 more source

Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease.

Biochimica et Biophysica Acta, 2004
S. Ishii, H. Yoshioka, K. Mannen, A. Kulkarni, Jian‐Qiang Fan   +4 more
semanticscholar   +1 more source

Characterization of Adult Patients With Neurometabolic Disorders: A Cross‐Sectional Study at a Tertiary Neurology Center in Sweden

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann   +2 more
wiley   +1 more source

Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector.

Proceedings of the National Academy of Sciences of the United States of America, 1996
J. Medin, Matthew Tudor, Ryan Simovitch, J. Quirk, Steven Jacobson, Gary J. Murray, R. Brady   +6 more
semanticscholar   +1 more source

Aging and periodontitis increase brain dissemination of oral bacteria

Journal of Periodontology, Volume 97, Issue 9, Page 1965-1979, September 2026.
Abstract Background The microbiome is a dynamic system that changes throughout life. Studies have revealed the relationship between periodontal disease and the oral microbiota; however, the impact of periodontal disease on the expression of senescence markers and on the inflammaging of the oral and systemic microbiome remains unclear.
Ozge Unlu, Tsute Chen, Nil Yakar, Zeliha Guney, Bruce Paster, Isabel Carreras, Alpaslan Dedeoglu, Alpdogan Kantarci   +7 more
wiley   +1 more source

Sequence variations in the first exon of alpha-galactosidase A.

Journal of Medical Genetics, 1993
J. Davies, Bryan G. Winchester, Sue Malcolm   +2 more
semanticscholar   +1 more source

Toward Sustainable Enzyme Production From Agro‐Industrial Residues: Optimizing pH and Soyhull Particle Size in Fungal Fermentation

Journal of Surfactants and Detergents, Volume 29, Issue 5, Page 773-787, September 2026.
Sustainable enzyme production from soyhull fermentation. ABSTRACT Carbohydrase enzymes are critical to sustainable detergent formulations, enabling effective cleaning at lower temperatures and reduced resource use. To improve the economic and environmental viability of enzyme production, this study explored soybean hulls—a low‐value agricultural by ...
Ashwin Sancheti, Lu‐Kwang Ju
wiley   +1 more source

Next‐Generation Pluronic Micelles for Advanced Drug Delivery Application

Macromolecular Materials and Engineering, Volume 311, Issue 9, September 2026.
The present review provides a comprehensive overview of Pluronic‐based micelles for advanced drug and gene delivery. It highlights their structure, classification, synthesis, self‐assembly, and functionalization, as well as their biocompatibility and stimuli‐responsive properties.
Manoj Gundeti, Nithin Vidiyala, Shreya Dalvi, Rushikesh Girase, Sunil kumar Thota, Keshav Raj Paudel, Sathish Dyawanapelly   +6 more
wiley   +1 more source