Results 221 to 230 of about 5,194,122 (262)

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

Unable to walk or eat without assistance in pregnancy-Wilson's disease in a resource-limited and conflict-affected setting: a case report. [PDF]

J Med Case Rep
Prins TJ, Tun NW, Min AM, Stokes SA, McGready R.   +4 more
europepmc   +1 more source

Recent Advances in Top‐Down Proteomics for Single‐Cell Research

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Individual cells have distinctive molecular characteristics, including biologically relevant proteoforms. Although single‐cell (SC) molecular omics offer unprecedented insights into cellular heterogeneity and function, the characterization of proteoforms in SCs remains an uncharted territory.
Jake A. Melby, Pei Su, Fabio P. Gomes
wiley   +1 more source

Prevalence of pre-existing neutralizing antibodies to AAV5 and AAV8 in patients with Wilson's disease. [PDF]

Mol Ther Adv
Zheng ZW, Liu H, Guo LY, Fan LN, Liu C, Li FR, Zhou R, Qu L, Wang RM, Xu WQ, Yang GM, Dong B, Dong Y, Wu ZY.   +13 more
europepmc   +1 more source

Proteoforms in Disease: Biomedical Applications of Top‐Down Proteomics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The proteome is a dynamic landscape of proteoforms arising from genetic mutations, alternative splicing, and post‐translational modifications (PTMs), which collectively drive biological function and disease phenotypes. Mass spectrometry (MS)‐based proteomics has emerged as an essential technique for elucidating this molecular complexity ...
Holden T. Rogers, Zachery R. Gregorich, Megan S. Gant, Zhan Gao, Julia Chamot‐Rooke, Ying Ge   +5 more
wiley   +1 more source

Patients with Wilson's Disease Are Insensitive to Sulfur Odors. [PDF]

Mov Disord Clin Pract
Haehner A, Reuner U, Nagai MH, Alkar YS, Matsunami H, Hummel T.   +5 more
europepmc   +1 more source

Keeping It Native: Non‐Denaturing Approaches to Top‐Down Protein Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Top‐down proteomics and top‐down mass spectrometry approaches provide direct characterization of proteoforms; the specific molecular forms of proteins, including post‐translational modifications, truncations, alternative splicing, and sequence variants.
Michael Xiao, Edvaldo Vasconcelos Soares Maciel, Frederik Lermyte, Owen S. Skinner   +3 more
wiley   +1 more source

Unmasking the Duo: Wilson's Disease in the Context of Lupus and Existing Hepatitis E Coinfection. [PDF]

Clin Case Rep
Hussain SM, Khan A, Anas Z, Khan Z, Abbasi A, Haque MA.   +5 more
europepmc   +1 more source

Breathe, Eat, Talk: Three Essential Ingredients to Quality‐of‐Life Outcomes in Movement Disorders

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Breathing, eating, and talking (BET) impairments are common yet frequently underrecognized features of movement disorders. Deficits in respiration, swallowing, voice, and speech may emerge early in the course of a disease, adversely affecting safety, participation, and quality of life.
John Dean, Lena C. O’Flynn, Michelle Ciucci, Cynthia Fox, Jessica E. Huber, Supraja Anand, Maira Rozenfeld Olchik, Jibrin S. Usman, Adam P. Vogel, Bettina Aguiar, Diana Khasanova, Dharshini Manoharan, Lorraine Ramig, Angela Roberts, Federico Rodriguez‐Porcel, Kristina Simonyan, Julie M. Barkmeier‐Kraemer   +16 more
wiley   +1 more source

The Economic Burden, Epidemiological Insights, and Treatment Patterns of Wilson's Disease: A Real-World Study in Italy. [PDF]

Drugs Real World Outcomes
Sciattella P, Scortichini M, Cazzagon N, Loudianos G, Zuin M, Battezzati PM, Maggiore G, Grieco A, Baglione E, Senzolo M, Mazza S, Della Corte C, Tortora A, Di Dato F, Matarazzo M, Iorio R.   +15 more
europepmc   +1 more source