PubMed (cited) for id: 228000

Year	Number of Results
1957	1
1962	1
1970	1
1972	1
1976	1
1979	1
1984	1
1985	2
1986	2
1987	1
1989	1
1996	2
1997	1
1999	1
2001	1
2013	1
2016	1
2018	1
2020	1
2024	0

1

Bao X, Ma M, Zhang Z, Xu Y, Qiu Z. Bao X, et al. Am J Med Genet A. 2020 Sep;182(9):2184-2186. doi: 10.1002/ajmg.a.61752. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32706452

2

Acid ceramidase deficiency: Farber disease and SMA-PME.

Yu FPS, Amintas S, Levade T, Medin JA. Yu FPS, et al. Orphanet J Rare Dis. 2018 Jul 20;13(1):121. doi: 10.1186/s13023-018-0845-z. Orphanet J Rare Dis. 2018. PMID: 30029679 Free PMC article. Review.

3

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.

Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A. Bonafé L, et al. Arthritis Rheumatol. 2016 Sep;68(9):2323-7. doi: 10.1002/art.39659. Epub 2016 Jul 29. Arthritis Rheumatol. 2016. PMID: 26945816

4

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.

Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG. Alves MQ, et al. Mol Genet Metab. 2013 Jul;109(3):276-81. doi: 10.1016/j.ymgme.2013.04.019. Epub 2013 May 4. Mol Genet Metab. 2013. PMID: 23707712

5

Farber's disease. Report of a case with observations on its histogenesis and notes on the nature of the stored material.

ABUL-HAJ SK, MARTZ DG, DOUGLAS WF, GEPPERT LJ. ABUL-HAJ SK, et al. J Pediatr. 1962 Aug;61:221-32. doi: 10.1016/s0022-3476(62)80257-1. J Pediatr. 1962. PMID: 13859108 No abstract available.

6

Lipogranulomatosis; a new lipo-glycoprotein storage disease.

FARBER S, COHEN J, UZMAN LL. FARBER S, et al. J Mt Sinai Hosp N Y. 1957 Nov-Dec;24(6):816-37. J Mt Sinai Hosp N Y. 1957. PMID: 13481627 No abstract available.

7

Molecular analysis of acid ceramidase deficiency in patients with Farber disease.

Bär J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K. Bär J, et al. Hum Mutat. 2001 Mar;17(3):199-209. doi: 10.1002/humu.5. Hum Mutat. 2001. PMID: 11241842

8

The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.

Li CM, Park JH, He X, Levy B, Chen F, Arai K, Adler DA, Disteche CM, Koch J, Sandhoff K, Schuchman EH. Li CM, et al. Genomics. 1999 Dec 1;62(2):223-31. doi: 10.1006/geno.1999.5940. Genomics. 1999. PMID: 10610716

9

Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease.

Kattner E, Schäfer A, Harzer K. Kattner E, et al. Eur J Pediatr. 1997 Apr;156(4):292-5. doi: 10.1007/s004310050603. Eur J Pediatr. 1997. PMID: 9128814 Review.

10

Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.

Koch J, Gärtner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K. Koch J, et al. J Biol Chem. 1996 Dec 20;271(51):33110-5. doi: 10.1074/jbc.271.51.33110. J Biol Chem. 1996. PMID: 8955159 Free article.

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