Results 101 to 110 of about 46,559 (266)

Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika [Fabry disease - guidelines for diagnosis and management of adult patients] [PDF]

, 2014
Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with ...
Merkler, Marijan, Muačević-Katanec, Diana, Pećin, Ivan, Reiner, Željko, Šimić, Iveta, Šućur, Nediljko   +5 more
core  

A Comprehensive Review on Nutrition, Phytochemistry, Pharmacology and Food Application Perspectives of Bioactive Rich Superfruits

Future Postharvest and Food, EarlyView.
The review critically evaluated and compared the selected superfruit phytochemistry, their bioactive composition and the key health benefits majorly emphasizing the antioxidant potential. It has highlighted the translational challenges in formulating functional foods by addressing the issues related to delivery system, bioavailability mechanism and the
Sharath Kumar Nagaraja, Javid Iqbal Mir, Mahendra Kumar Verma, Aamir Hussain Dar   +3 more
wiley   +1 more source

Frequency of Fabry disease in chronic kidney disease patients including patients on renal replacement therapy in Korea [PDF]

Kidney Research and Clinical Practice
Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase (α- Gal A), affecting multiple organs including kidney. In this study, we aimed to determine the prevalence of FD in patients with
Eunjung Cho, Jung Tak Park, Tae-Hyun Yoo, Soo Wan Kim, Cheol Whee Park, Seung Seok Han, Yeong Hoon Kim, Young Joo Kwon   +7 more
doaj   +1 more source

Pituitary function and morphology in Fabry disease.

, 2015
Endocrine abnormalities are known to affect patients with Fabry disease (FD). Pituitary gland theoretically represents an ideal target for FD because of high vascularization and low proliferation rate.
Belfiore, Maria Paola, Colao, Annamaria, Daniele, Aurora, Faggiano, Antongiulio, Maione, Luigi, Modica, Roberta, Pisani, Antonio, Ramundo, Valeria, Riccio, Eleonora, Tortora, Fabio   +9 more
core   +1 more source

Genomic Inference of the Metabolism and Evolution of the Archaeal Phylum Aigarchaeota [PDF]

, 2018
Microbes of the phylum Aigarchaeota are widely distributed in geothermal environments, but their physiological and ecological roles are poorly understood.
Castelle, Cindy J., Hedlund, Brian P., Hua, Zheng-Shuang, Knight, Rob, Li, Wen-Jun, Li, Yu-Xian, Liu, Lan, Qi, Yan-Ling, Qu, Yan-Ni, Rao, Yang-Zhi, Shu, Wen-Sheng, Tian, Ye, Yin, Yi-Rui, Zhou, En-Min, Zhu, Qiyun   +14 more
core   +3 more sources

Fabry disease. A potential pitfall A family with a novel intronic mutation

Molecular Genetics and Metabolism Reports, 2018
Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity.
Gustavo Cabrera, Fernando Perretta
doaj   +1 more source

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

Aging and periodontitis increase brain dissemination of oral bacteria

Journal of Periodontology, EarlyView.
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

Advancements in Mass Spectrometry‐Based Glycomics in Food and Nutritional Science

Mass Spectrometry Reviews, EarlyView.
ABSTRACT This review highlights advancements in mass spectrometry (MS)‐based glycomics in food and nutritional science. Carbohydrates, which are vital for human health, exhibit complex structures, making their analysis challenging. MS has become an indispensable tool for elucidating the structures of carbohydrates, including glycans, through soft ...
JaeHui Song, HyunJi Lee, Youngshik Choe, Hyeyoung Lee   +3 more
wiley   +1 more source

The N‐Glycome to Differentiate Mesenchymal Stem Cells Upon Chondrogenic Differentiation, Dedifferentiation, and Senescence

PROTEOMICS, EarlyView.
ABSTRACT Mesenchymal stem cells (MSCs) are adult stem cells able to self‐renewal or differentiation into different cell types, including chondrocytes. N‐Glycans are post‐translational modifications of glycoproteins that contribute to vital cell functions.
Houda Montacir, Karina Biskup, Michael Sittinger, Rudolf Tauber, Véronique Blanchard   +4 more
wiley   +1 more source