A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Targeting the Gut-Kidney-Heart Axis in Chronic Kidney Disease: The Mediterranean Diet as a Strategy to Reduce Uremic Toxins and Cardiovascular Risk. [PDF]
NutrientsRadić J +6 more
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
The Role of Diet and Gut Microbiome in CKD Progression and Therapy. [PDF]
J Clin MedLau WL +3 more
europepmc +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Design and Characterization of Recombinant and Chimeric BoNT/A Neurotoxins with Receptor-Binding Domain Grafting. [PDF]
Toxins (Basel)Pan S, Ye Y, Li Y, Fu H, Wang J.
europepmc +1 more source
Validation of a UPLC-MS/MS method for multi-matrix biomonitoring of Alternaria toxins in humans
Mycotoxins, natural toxins produced by fungi, contaminate nearly 80% of global food crops. Alternaria mycotoxins, including alternariol (AOH), alternariol monomethylether (AME), and tenuazonic acid (TeA), present a health concern due to their prevalence ...
De Saeger, SarahFW03FW588010009571250000-0002-2160-7253F4CD454A-F0ED-11E1-A9DE-61C894A0A6B4 +3 more
core
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Performance-based classification of dialyzers: integrating YKL-40 for advanced middle-molecule clearance - A Chinese expert consensus. [PDF]
Ren FailZhu L +15 more
europepmc +1 more source
Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome
Arthritis Care &Research, EarlyView.Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino +9 more
wiley +1 more source