Results 81 to 90 of about 15,263 (240)
Prevalence and management of Gaucher disease
, 2011 T Andrew Burrow, Sonya Barnes, Gregory A GrabowskiThe Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USAAbstract: Gaucher ...
Grabowski GA, Barnes S, Burrow TA
core
Efferocytosis is impaired in Gaucher macrophages
Haematologica, 2017 Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes or apoptotic leukocytes.
Elma Aflaki +6 more
doaj +1 more source
Periodontology 2000, EarlyView.AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer +4 more
wiley +1 more source
The what, which, when, why and who of Off responses in the auditory system
The Journal of Physiology, EarlyView.Abstract figure legend In this article, we will first review ‘What’ different mechanisms are involved in the generation of Off responses at the sub‐cortical and cortical level of the auditory system. Then, we evaluate ‘Which’ stimulus properties elicit Off responses at the different levels of the auditory system.
Jean‐Marc Edeline, Robert C. Liu
wiley +1 more source
A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma
Case Reports in Oncological Medicine, 2019 We are reporting a case of a 30-year-old male with no past medical history who presented with new onset of renal failure, anemia, and splenomegaly and was diagnosed with multiple myeloma.
Juskaran Chadha +3 more
doaj +1 more source
Haematologica, 2009 There are few published data from real-world clinical experience with miglustat (Zavesca®), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease.
Pilar Giraldo +9 more
doaj +1 more source
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Acid sphingomyelinase deficiency (ASMD), historically known as Niemann‐Pick disease, is a rare and potentially fatal lysosomal storage disease caused by pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM).
Maria Cristina Robin +10 more
wiley +1 more source
Home Enzyme Replacement Therapy in Gaucher Disease : A Review
Since the early 1990s, Gaucher Disease has been a pioneering condition for home-based enzyme replacement therapy (ERT), marking a significant shift in patient care. Since then, many countries have adopted this approach.
Dan, Michaela +6 more
core +1 more source
Mass spectrometry proteomics for studying mitostasis
Protein Science, Volume 35, Issue 7, July 2026.Abstract Maintaining mitochondrial integrity and function is fundamental to cellular homeostasis. Cells rely on coordinated protein quality control (QC) systems—including intricate chaperone‐protease networks, the ubiquitin‐proteasome system, and cytosolic surveillance pathways—that together form a dynamic, cell‐wide mitostasis network governing the ...
Lakshita Sharma +5 more
wiley +1 more source
Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents
Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev +5 more
wiley +1 more source