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2. The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

4. Detect Lysosomal Storage Diseases: A no-charge, sponsored, testing program that enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal disorders

5. Subcutaneous nodules as a clinical biomarker of Farber disease

7. Acid ceramidase deficiencypresenting as Farber disease: prospective and retrospective clinical data from an ongoing natural history study

8. ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype

9. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

10. Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data

12. Farber disease (acid ceramidase deficiency): Data from an ongoing natural history study

13. The pro-inflammatory immunophenotype of a Farber disease mouse model is ameliorated by repeated dosing with RVT-801, a developmental enzyme replacement therapy for Farber disease

14. Farber disease acid ceramidase deficiency is more common than previously thought and slowly progressive disease may only be diagnosed in adulthood

15. Loss of acid ceramidase activity in a murine model of Farber disease leads to an early and profound immuno-phenotype that reflects alterations in both the innate and adaptive immune cell populations

17. Effect of antimony on magnetic properties in non-oriented 2.4 wt.% Si electrical sheets

19. Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy

26. Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients

29. Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.

31. Aspirin Resistance

32. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016

34. Farber Disease (Acid Ceramidase Deficiency): The First Natural History Study of This Rare Disease Involving Symptoms Which Can Mimic JIA

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