Literature DB >> 13859108

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

S K ABUL-HAJ, D G MARTZ, W F DOUGLAS, L J GEPPERT.   

Abstract

Entities:  

Keywords:  LIPOIDOSIS/in infancy and childhood; MENTAL DEFICIENCY/case reports; MUCOPOLYSACCHARIDES/metabolism

Mesh：

Substances：

Year:  1962        PMID： 13859108     DOI： 10.1016/s0022-3476(62)80257-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  5 in total

Review 1.  The skin in genetically-controlled metabolic disorders.

Authors:  P C Newbold
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

2.  Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency.

Authors:  Fabian P S Yu; Diana Islam; Jakub Sikora; Shaalee Dworski; Jiří Gurka; Lucía López-Vásquez; Mingyao Liu; Wolfgang M Kuebler; Thierry Levade; Haibo Zhang; Jeffrey A Medin
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2017-11-22       Impact factor: 5.464

3.  Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy.

Authors:  J F Pellissier; M Berard-Badier; N Pinsard
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

4.  Lipomembranous polycystic osteodysplasia.

Authors:  S Yagishita; Y Ito; R Ikezaki
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1976-12-27

Review 5.  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
  5 in total

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