Results 41 to 50 of about 8,964,539 (118)

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Corpora Amylacea and Unexpected Death: A Case of Adult Polyglucosan Body Disease Diagnosed at Forensic Autopsy

, 2012
Adult polyglucosan body disease (APBD) is a rare neurodegenerative condition characterized by typical onset in middle age, progressive neurological impairment that is heterogeneous between cases, and death within 1-14 years of diagnosis.
R. Ross Reichard, Timothy L. Williams
core   +1 more source

Characterisation of phenotypic patterns in equine exercise‐associated myopathies

Equine Veterinary Journal, Volume 57, Issue 2, Page 347-361, March 2025.
Abstract Background Equine exercise‐associated myopathies are prevalent, clinically heterogeneous, generally idiopathic disorders characterised by episodes of myofibre damage that occur in association with exercise. Episodes are intermittent and vary within and between affected horses and across breeds.
Victoria Lindsay‐McGee, Claire Massey, Ying Ting Li, Emily L. Clark, Androniki Psifidi, Richard J. Piercy   +5 more
wiley   +1 more source

Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS)

European Journal of Neurology, Volume 32, Issue 1, January 2025.
Abstract Background Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG‐associated myopathies remains poorly described. Objective To report a newly acquired myopathy associated with MG.
Katia Staedler, Yves Allenbach, Emmanuelle Salort‐Campana, Edoardo Malfatti, Aude Rigolet, Shahram Attarian, André Maues de Paula, Sarah Léonard‐Louis, Olivier Benveniste, Tanya Stojkovic   +9 more
wiley   +1 more source

Temporopolar blurring signifies abnormalities of white matter in mesial temporal lobe epilepsy

Annals of Clinical and Translational Neurology, Volume 11, Issue 11, Page 2932-2945, November 2024.
Abstract Objective The single‐center retrospective cohort study investigated underlying pathogenic mechanisms and clinical significance of patients with temporal lobe epilepsy and hippocampal sclerosis (TLE‐HS), in the presence/absence of gray–white matter abnormalities (usually called “blurring”; GMB) in ipsilateral temporopolar region (TPR) on MRI ...
Yuming Li, Peiwen Liu, Qiuxing Lin, Wei Li, Yingying Zhang, Jinmei Li, Xiuli Li, Qiyong Gong, Heng Zhang, Luying Li, Xiutian Sima, Danyang Cao, Xiang Huang, Kailing Huang, Dong Zhou, Dongmei An   +15 more
wiley   +1 more source

A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease.

, 2014
We report the clinical, neuro-imaging, pathological and biochemical features of an Italian family in which two siblings have the Adult Polyglucosan Body Disease (APBD).
Lucà R, Lombardi L, LUCA', ROBERTA, ROPERTO, FRANCO PEPPINO, DI IORIO, GIUSEPPE, Napolitano F, SAMPAOLO, SIMONE, Esposito T, Gianfrancesco F, Roperto F   +9 more
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What can pediatricians learn from adult inherited metabolic diseases?

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 876-884, September 2024.
Abstract The field of inherited metabolic diseases (IMD) has initially emerged and developed over decades in pediatric departments. Still, today, about 50% of patients with IMD are adults, and adult metabolic medicine (AMM) is getting more structured at national and international levels.
Fanny Mochel
wiley   +1 more source

Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract RBCK1‐related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1 ...
Haley M. Crane, Stephanie Asher, Laura Conway, Theodore G. Drivas, Staci Kallish   +4 more
wiley   +1 more source

[P.D.F Download] Adult Congenital Heart Disease Full PDF Online

, 2020
Read Or Download Adult Congenital Heart Disease Full Books By by Carole A. Warnes (Editor) Read Online => Read Adult Congenital Heart Disease Download Book => Download Adult Congenital Heart Disease Adult Congenital Heart Disease pdf download Adult ...
[P.D.F Download] Adult Congenital Heart Disease Full PDF Online
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Body size at birth is associated with food and nutrient intake in adulthood [PDF]

, 2012
BACKGROUND: Small body size at birth is associated with an increased risk of cardiovascular disease and type 2 diabetes. Dietary habits are tightly linked with these disorders, but the association between body size at birth and adult diet has been little
Valsta, Liisa M., Perälä Mia-Maria, Kaartinen Niina E., Eriksson Johan G., Liisa M Valsta, Osmond Clive, Kajantie, Eero, Mannisto, Satu, Eriksson, J.G., Johan G Eriksson, Eero Kajantie, Perälä, M.M., David J P Barker, Valsta, L.M., Eriksson, Johan G., Mia-Maria Perälä, Barker, D.J., Kajantie, E., Kaartinen, N.E., Valsta Liisa M., Niina E Kaartinen, Barker David J. P., Satu Männistö, Clive Osmond, Perala, Mia-Maria, Kaartinen, Niina E., Kajantie Eero, Osmond, C., Männistö Satu, Osmond, Clive, Barker, David J. P., Mannisto, S.   +31 more
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