Results 61 to 70 of about 3,683 (169)

Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience

Renal Failure
Fabry disease (FD) is a progressive, multisystemic X-linked disorder caused by mutations in the GLA gene, often leading to renal failure. Although several screening programs have been conducted, the prevalence of FD in patients with chronic kidney ...
Yuri Battaglia, Federica Baciga, Meilad Shakkour, Savio Russo, Giulia Carnicella, Michela Erlati, Gemma Sartori, Giulia Tronconi, Renzo Mignani, Federico Pieruzzi, Paolo Colomba, Laura Scichilone, Michele Andreucci, Concetto Sessa, Giovanni Duro   +14 more
doaj   +1 more source

An improved technique for separation of neutral glycosphingolipids by high-performance liquid chromatography

Journal of Lipid Research, 1980
We have developed a high-performance liquid chromatographic (HPLC) procedure for separation of O-acetyl-N-p-nitrobenzoyl derivatives of six neutral glycosphingolipids: glucosylceramide, lactosylceramide, globotriaosylceramide, lactotriaosylceramide ...
A Suzuki, S K Kundu, D M Marcus
doaj   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

Deciphering the Chemotherapeutic Mechanism of Ferulic Acid: Insight Into the Role Against Multiple Human Cancers

Cancer Innovation, Volume 5, Issue 2, April 2026.
Ferulic acid (FA), a naturally occurring compound, exhibits anticancer activity against 16 cancer types through multiple molecular pathways. Its enhanced delivery via nanoformulations and synergistic effects with other therapies suggest FA as a promising, food‐based adjunct for cancer symptom control until fully approved pharmaceutical options are ...
Sanzida Khatun, Md Sohel, Zitu Barman, Umme Salma, Lubatul Arbia, Md. Rifat Sarker, Jasmin Akter Jame, Badhan Rani Dey, Sultana Parvin, Md. Shah Poran Shuvo, Md. Shahidul Islam, Tania Mannan, Snygdha Rani Das, Md. Mahmudul Hasan   +13 more
wiley   +1 more source

Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells

EBioMedicine, 2020
Background: Fabry disease (FD) is a recessive X-linked lysosomal storage disorder caused by α-galactosidase A (GLA) deficiency. Although the mechanism is unclear, GLA deficiency causes an accumulation of globotriaosylceramide (Gb3), leading to ...
Hyo-Sang Do, Sang-Wook Park, Ilkyun Im, Donghyuk Seo, Han-Wook Yoo, Heounjeong Go, Yoo Hyung Kim, Gou Young Koh, Beom-Hee Lee, Yong-Mahn Han   +9 more
doaj   +1 more source

Self‐Immolative Systems in Diagnostic and Therapeutic Applications

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
Self‐Immolative Systems enable the precise, residue‐free release of active molecules, drugs, probes, or sensors, via cyclization or elimination, triggered by specific stimuli. Their versatility drives advances in drug delivery, diagnostics, nanotechnology, materials chemistry, and biosensing, offering chemists control over molecular activation and ...
Windbedema Prisca Ouédraogo, Thomas Cailly, Valérie Collot   +2 more
wiley   +1 more source

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. [PDF]

PLoS ONE, 2007
Two different enzyme preparations, agalsidase alfa (Replagal(TM), Shire) and beta (Fabrazyme(TM), Genzyme), are registered for treatment of Fabry disease.
Anouk C Vedder, Gabor E Linthorst, Gunnar Houge, Johannna E M Groener, Els E Ormel, Berto J Bouma, Johannes M F G Aerts, Asle Hirth, Carla E M Hollak   +8 more
doaj   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
L. Lenzini, G. Pintus, G. Gugelmo, A. P. Burlina, G. P. Fadini, A. B. Burlina, N. Vitturi   +6 more
wiley   +1 more source