Related Experiment Videos
Farber's disease (lysosomal acid ceramidase deficiency)
R A Jameson1, P J Holt, J H Keen
1Booth Hall Children's Hospital, Manchester.
Annals of the Rheumatic Diseases
|July 1, 1987
Abstract:
The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Comparative analysis of the outcomes of elective abdominal aortic aneurysm repair in England and Sweden.
The British journal of surgery·2018
Expansion rate of descending thoracic aortic aneurysms.
The British journal of surgery·2016
Cardiovascular risk prevention and all-cause mortality in primary care patients with an abdominal aortic aneurysm.
The British journal of surgery·2016
The Endovascular Sealing Device in Combination with Parallel Grafts for Treatment of Juxta/Suprarenal Abdominal Aortic Aneurysms: Short-term Results of a Novel Alternative.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery·2016
Preoperative morphology influences thoracic aortic aneurysm sac expansion after endovascular repair.
The British journal of surgery·2016
Systematic Review of the Growth Rates and Influencing Factors in Thoracic Aortic Aneurysms.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery·2016
Impact of disease activity on bone density, microarchitecture, and biomechanical properties in rheumatoid and psoriatic arthritis over 7 years.
Annals of the rheumatic diseases·2026
Interferon-stimulated gene signature predicts clinical response to low-dose IL-2 in immune-mediated inflammatory diseases.
Annals of the rheumatic diseases·2026
Low-dose blinatumomab in multidrug-resistant rheumatoid arthritis-a case series.
Annals of the rheumatic diseases·2026
Spatially distinct macrophage subsets drive myofibroblast heterogeneity and maladaptive fibrosis in lupus nephritis.
Annals of the rheumatic diseases·2026
Immunofluorescence Detection of Lysyl Oxidase in Formalin-Fixed Paraffin-Embedded Breast Tissue.
Methods in molecular biology (Clifton, N.J.)·2026
Safety and Efficacy of an Irreversible Electroporation System with Real-Time Electrical and Thermal Monitoring for Liver Tumors: A Bicentric Retrospective Study.
Cardiovascular and interventional radiology·2026
Sucralfate/sodium alginate capsules and PPI-refractory reflux symptoms in non-erosive reflux disease and mild erosive disease: a randomized, phase 3, non-inferiority study.
Digestive diseases (Basel, Switzerland)·2026