Results 31 to 40 of about 4,991,114 (167)

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina

Journal of Inborn Errors of Metabolism and Screening, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Paula A Rozenfeld PhD, Romina Ceci Bioc, Norma Roa Lic, Isaac Kisinovsky MD   +3 more
doaj   +1 more source

Fabry pedigree analysis: A successful program for targeted genetic approach

Molecular Genetics & Genomic Medicine, 2019
Background Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide.
Paula A. Rozenfeld, Francisca M. Masllorens, Norma Roa, Fernanda Rodriguez, Mariela Bonnano, Carolina Yvorra, Romina Ceci   +6 more
doaj   +1 more source

Frequency of de novo mutations in Japanese patients with Fabry disease

Molecular Genetics and Metabolism Reports, 2014
We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of de novo mutations.
Masahisa Kobayashi, Toya Ohashi, Sayoko Iizuka, Eiko Kaneshiro, Takashi Higuchi, Yoshikatsu Eto, Hiroyuki Ida   +6 more
doaj   +1 more source

Dysregulated phosphatidylglycerol metabolism in dorsal root ganglia contributes to pain hypersensitivity in a mouse model of Fabry disease

Neurobiology of Disease
Fabry disease (FD) is a genetic disorder caused by a deficiency of alpha-galactosidase A. Neuropathic pain is a hallmark of FD, beginning in early childhood and persisting throughout life.
Nan Lian, Jinfeng Luo, Wei Ou, Junyan Wang, Jiayi Du, Zhimin Tan, Xinrong Zuo, Yan Yin, Cheng Zhou, Tao Li, Su Lui, Peilin Lu   +11 more
doaj   +1 more source

A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology

Stem Cell Reports, 2019
Summary: Here, we have used patient-derived induced pluripotent stem cell (iPSC) and gene-editing technology to study the cardiac-related molecular and functional consequences of mutations in GLA causing the lysosomal storage disorder Fabry disease (FD),
Matthew J. Birket, Sophie Raibaud, Miriam Lettieri, Antony D. Adamson, Valerie Letang, Pauline Cervello, Nicolas Redon, Gwenaelle Ret, Sandra Viale, Bing Wang, Bruno Biton, Jean-Claude Guillemot, Vincent Mikol, John P. Leonard, Neil A. Hanley, Cecile Orsini, Jean-Michel Itier   +16 more
doaj   +1 more source

SGLT2 Inhibitors and Cardiovascular Outcomes in Patients With Fabry Disease: Observations From a Federated Research Network

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background and Aim Fabry disease (FD) is frequently complicated by renal impairment and cardiovascular events; however, evidence on sodium–glucose cotransporter‐2 inhibitors (SGLT2i) in this population is scarce. Accordingly, we assessed the association between SGLT2i exposure and cardiovascular outcomes in adults with FD. Methods We conducted
Leandra Serio, Michele Rossi, Amir Askarinejad, Enrico Tartaglia, Tommaso Bucci, Enrica Marrone, Dinesh K. Kalra, Claudio Ferri, Gregory Y. H. Lip   +8 more
wiley   +1 more source

Aortic remodelling in Fabry disease [PDF]

, 2010
Aims To evaluate thoracic aortic dilation in patients with Fabry disease (FD). Methods and results A cohort of 106 patients with FD (52 males; 54 females) from three European centres were studied.
Brakch, N., Barbey, F., Palacek, T., Palaček, Tomáš, Jeanrenaud, X, Eckhardt, B, Rizzo, E., Linhart, A, Linhart, A., Juli, C., Barbey, F, Juli, C, Rizzo, E, Qanadli, S.D., Jeanrenaud, X., Eckhardt, B., Brakch, N, Qanadli, S D   +17 more
core   +1 more source

A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm

Orphanet Journal of Rare Diseases, 2021
Background Fabry disease (FD) is a rare genetic disorder characterized by glycosphingolipid accumulation and progressive damage across multiple organ systems.
John L. Jefferies, Alison K. Spencer, Heather A. Lau, Matthew W. Nelson, Joseph D. Giuliano, Joseph W. Zabinski, Costas Boussios, Gary Curhan, Richard E. Gliklich, David G. Warnock   +9 more
doaj   +1 more source

Brillouin–Raman micro‐mapping of silicone‐hydrogel contact lenses: Revealing chemical and mechanical heterogeneities

Journal of Microscopy, EarlyView.
Abstract Joint Brillouin–Raman micro‐spectroscopy (BRMS) enables simultaneous, non‐destructive characterisation of the mechanical and chemical properties of soft materials at the micrometre scale, combining GHz‐range viscoelastic information from acoustic modes with the vibrational fingerprint of molecular species.
Alessandra Anna Passeri, Martina Alunni Cardinali, Erika Ponzini, Silvia Tavazzi, Daniele Fioretto   +4 more
wiley   +1 more source

Modern Approach to Fabry Disease Diagnosis and Management in Children

Вопросы современной педиатрии
Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement.
Olga Ya. Smirnova, Nato D. Vashakmadze, Maria S. Karaseva, Natalia V. Zhurkova, Anna Yu. Rachkova, Leyla S. Namazova-Baranova   +5 more
doaj   +1 more source