Literature DB >> 19242039

Disseminated lipogranulomatosis.

R K Mondal1, M Nandi, S Datta, M Hira.   

Abstract

Farber disease or disseminated lipogranulomatosis is a rare inherited disorder of lipid metabolism resulting from a defect in ceramide degradation. Because of the feature of nodular swellings around various joints, this may sometimes be confused with juvenile idiopathic arthritis. We report a 4-year-old boy with Farber disease who presented with nodular swellings around the joint, angle of the mouth and conjunctiva, and was subsequently diagnosed to be a case of Farber Disease.

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Year:  2009        PMID: 19242039

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN: 0019-6061            Impact factor:   1.411


  6 in total

1.  Markedly perturbed hematopoiesis in acid ceramidase deficient mice.

Authors:  Shaalee Dworski; Alexandra Berger; Caren Furlonger; Joshua M Moreau; Makoto Yoshimitsu; Jessa Trentadue; Bryan C Y Au; Christopher J Paige; Jeffrey A Medin
Journal:  Haematologica       Date:  2015-02-14       Impact factor: 9.941

2.  Function and comorbidities of apolipoprotein e in Alzheimer's disease.

Authors:  Valérie Leduc; Dorothée Domenger; Louis De Beaumont; Daphnée Lalonde; Stéphanie Bélanger-Jasmin; Judes Poirier
Journal:  Int J Alzheimers Dis       Date:  2011-04-05

Review 3.  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

4.  Arterial Medial Calcification through Enhanced small Extracellular Vesicle Release in Smooth Muscle-Specific Asah1 Gene Knockout Mice.

Authors:  Owais M Bhat; Guangbi Li; Xinxu Yuan; Dandan Huang; Erich Gulbins; Rakesh C Kukreja; Pin-Lan Li
Journal:  Sci Rep       Date:  2020-02-03       Impact factor: 4.379

5.  Regulatory role of mammalian target of rapamycin signaling in exosome secretion and osteogenic changes in smooth muscle cells lacking acid ceramidase gene.

Authors:  Owais M Bhat; Xinxu Yuan; Rakesh C Kukreja; Pin-Lan Li
Journal:  FASEB J       Date:  2021-07       Impact factor: 5.834

Review 6.  Approach to Patients with Neurometabolic Diseases Who Show Characteristic Signs and Symptoms.

Authors:  Parvaneh Karimzadeh; Mohammad Ghofrani; Shahram Nasiri
Journal:  Iran J Child Neurol       Date:  2020
  6 in total

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