References
Gatt S. Enzymic hydrolysis and synthesis of ceramides. J Biol Chem. 1963;238:3131–3.
Bashyam MD, Chaudhary AK, Kiran M, et al. Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clin Genet. 2014;86:530–8.
Yu FPS, Amintas S, Levade T, Medin JA Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 2018;13:121.
Ehlert K, Levade T, Di Rocco M, et al. Allogeneic hematopoietic cell transplantation in Farber disease. J Inherit Metab Dis. 2019;42:286–94.
Schuchman EH, Mitchell J, Solyom A. Morbidity and mortality associated with Farber disease and prospects for therapy. Exp Opin Orphan Drugs. 2017;5:717–26.
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The authors thank the patient and his family for their co-operation. They acknowledge the Perkin-Elmer laboratories who performed genetic analysis of the child.
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AC, BP, SBM, AS and SS: Clinical patient care and diagnostics; SS, SBM and AS: Evaluation and interpretation of metabolic, genetic, and neuroradiological results; AC, DG, SBM, AS and SS: Drafting and writing of the manuscript. SS is the guarantor for this paper.
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Choudhary, A., Bijarnia-Mahay, S., Garg, D. et al. A Young Infant with Joint Swellings and Subcutaneous Nodules. Indian J Pediatr 88, 521–522 (2021). https://doi.org/10.1007/s12098-020-03270-7
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DOI: https://doi.org/10.1007/s12098-020-03270-7