Literature DB >> 24614645

Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.

Marta Torcoletti1, Antonella Petaccia2, Rita Maria Pinto2, Uros Hladnik2, Franco Locatelli3, Carlo Agostoni2, Fabrizia Corona2.   

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Year:  2014        PMID： 24614645     DOI： 10.1093/rheumatology/keu010

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN： 1462-0324            Impact factor:   7.580


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  8 in total

1.  Nervous system involvement in Farber disease.

Authors:  Alberto M Cappellari; Marta Torcoletti; Fabio Triulzi; Fabrizia Corona
Journal:  J Inherit Metab Dis       Date:  2015-09-15       Impact factor: 4.982

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

Authors:  Shaalee Dworski; Ping Lu; Aneal Khan; Bruno Maranda; John J Mitchell; Rossella Parini; Maja Di Rocco; Boris Hugle; Makoto Yoshimitsu; Bo Magnusson; Balahan Makay; Nur Arslan; Norberto Guelbert; Karoline Ehlert; Andrea Jarisch; Janet Gardner-Medwin; Rawane Dagher; Maria Teresa Terreri; Charles Marques Lorenco; Lilianna Barillas-Arias; Pranoot Tanpaiboon; Alexander Solyom; James S Norris; Xingxuan He; Edward H Schuchman; Thierry Levade; Jeffrey A Medin
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2016-12-01       Impact factor: 5.187

3.  A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.

Authors:  Matthias Zielonka; Sven F Garbade; Stefan Kölker; Georg F Hoffmann; Markus Ries
Journal:  Genet Med       Date:  2017-10-19       Impact factor: 8.822

4.  C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.

Authors:  Claudia Cozma; Marius-Ionuț Iurașcu; Sabrina Eichler; Marina Hovakimyan; Oliver Brandau; Susanne Zielke; Tobias Böttcher; Anne-Katrin Giese; Jan Lukas; Arndt Rolfs
Journal:  Sci Rep       Date:  2017-07-21       Impact factor: 4.379

5.  Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice.

Authors:  Xingxuan He; Shaalee Dworski; Changzhi Zhu; Victor DeAngelis; Alex Solyom; Jeffrey A Medin; Calogera M Simonaro; Edward H Schuchman
Journal:  BBA Clin       Date:  2017-02-13

Review 6.  Acid ceramidase deficiency: Farber disease and SMA-PME.

Authors:  Fabian P S Yu; Samuel Amintas; Thierry Levade; Jeffrey A Medin
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123

7.  Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis.

Authors:  Soheila Hoseinzadeh Moghadam; Ali Reza Tavasoli; Mohammadreza Modaresi; Vahid Ziaee
Journal:  J Musculoskelet Neuronal Interact       Date:  2019-12-01       Impact factor: 2.041

8.  Acid Sphingomyelinase Deficiency Ameliorates Farber Disease.

Authors:  Nadine Beckmann; Katrin Anne Becker; Stephanie Kadow; Fabian Schumacher; Melanie Kramer; Claudine Kühn; Walter J Schulz-Schaeffer; Michael J Edwards; Burkhard Kleuser; Erich Gulbins; Alexander Carpinteiro
Journal:  Int J Mol Sci       Date:  2019-12-11       Impact factor: 5.923
  8 in total

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