Literature DB >> 2854742

Farber lipogranulomatosis: an unusual presentation in a black child.

L Eviatar1, S L Sklower, K Wisniewski, R S Feldman, A Gochoco.   

Abstract

Farber disease, a rare, inherited condition of lipid metabolism usually appears within the first two months of life. The patients may die in the first few years of life or may live into the second decade. We believe this patient to be the first black American reported with Farber disease. Additionally, the characteristics of the disease in this patient were at variance with previously reported cases.

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Year:  1986        PMID: 2854742     DOI: 10.1016/0887-8994(86)90082-2

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  5 in total

1.  Accumulation of ordered ceramide-cholesterol domains in farber disease fibroblasts.

Authors:  Natalia Santos Ferreira; Michal Goldschmidt-Arzi; Helena Sabanay; Judith Storch; Thierry Levade; Maria Gil Ribeiro; Lia Addadi; Anthony H Futerman
Journal:  JIMD Rep       Date:  2013-07-12

2.  Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment.

Authors:  Fabian P S Yu; Benjamin S Sajdak; Jakub Sikora; Alexander E Salmon; Murtaza S Nagree; Jiří Gurka; Iris S Kassem; Daniel M Lipinski; Joseph Carroll; Jeffrey A Medin
Journal:  Am J Pathol       Date:  2018-11-23       Impact factor: 4.307

3.  Farber disease: clinical presentation, pathogenesis and a new approach to treatment.

Authors:  Karoline Ehlert; Michael Frosch; Natalja Fehse; Axel Zander; Johannes Roth; Josef Vormoor
Journal:  Pediatr Rheumatol Online J       Date:  2007-06-29       Impact factor: 3.054

Review 4.  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

Review 5.  Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.

Authors:  James C Dodge
Journal:  Front Mol Neurosci       Date:  2017-11-03       Impact factor: 5.639

  5 in total

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