Results 91 to 100 of about 9,175 (221)
Gaucher Disease: A Case with Unexplained Splenomegaly
Journal of Islamic International Medical College, 2018 A 5 years old male child presented with fever, repeated chest infection, short stature and developmental delay.On examination; he had massively enlarged spleen measuring 10 cm below left costal margin.
Ahsan Ahmad Alvi , Ayesha Nayyar , Rabiah Asghar , Muhammad Nadeem Akbar Khan , Ayesha Elahi , Ammar Naqvi
doaj
Bone Marrow Replaced with Gaucher Cells
, 2002 bone marrow replaced with Gaucher cells ...
Lawrence, Christine
core
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
Gaucher Cells with Fibrillar Appearing Cytoplasm
, 2002 two Gaucher cells with fibrillar appearing ...
Lawrence, Christine
core
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
Respiratory Medicine Case Reports, 2019 Background: Gaucher disease type 1 (GD1) is a lysosomal storage disease rarely resulting in end stage pulmonary hypertension (PH) and interstitial lung disease.
Gillian C. Goobie +9 more
doaj +1 more source
, 2021 Gaucher disease is a lysosomal storage disease, which happens due to mutations in GBA1/Gba1 that encodes the enzyme termed as lysosomal acid β-glucosidase.
Albert Frank Magnusen +8 more
core +1 more source
Israel Journal of Chemistry, Volume 66, Issue 4, July 2026.Solid‐state NMR combined with principal component analysis enables quantitative classification of fungal α‐ and β‐glucan architectures in intact cell walls, revealing conserved triple‐helical β‐1,3‐glucan conformations across species and predominantly bundled‐sheet α‐1,3‐glucan assemblies with condition‐dependent polymorphism. Statistical clustering of
Ankur Ankur +3 more
wiley +1 more source
Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases
Folia Histochemica et Cytobiologica, 2011 The hematologist is at the forefront of specialists to whom patients with Gaucher disease presentbecause of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephinebiopsy. We present the cases of two patients in whom
Bożena Sokołowska +6 more
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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