Literature DB >> 33551562

Syndromic Conundrums in Diabetes: Seek and Ye Shall Find: The Dorfman-Chanarin Syndrome.

Stephen Charles Bronson1, Alagianambi Shanmugam1, Chelliah Mythili1.   

Abstract

Entities:  

Year:  2021        PMID： 33551562      PMCID： PMC7839609          DOI： 10.2337/cd20-0021

Source DB:  PubMed          Journal:  Clin Diabetes        ISSN： 0891-8929


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  6 in total

1.  Neutral-lipid storage disease: a new disorder of lipid metabolism.

Authors:  I Chanarin; A Patel; G Slavin; E J Wills; T M Andrews; G Stewart
Journal:  Br Med J       Date:  1975-03-08

Review 2.  Hereditary and acquired ichthyosis vulgaris.

Authors:  Jason F Okulicz; Robert A Schwartz
Journal:  Int J Dermatol       Date:  2003-02       Impact factor: 2.736

3.  Ichthyosiform dermatosis with systemic lipidosis.

Authors:  M L Dorfman; C Hershko; S Eisenberg; F Sagher
Journal:  Arch Dermatol       Date:  1974-08

4.  Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

Authors:  Chiara Redaelli; Rosalind A Coleman; Laura Moro; Catherine Dacou-Voutetakis; Solaf Mohamed Elsayed; Daniele Prati; Agostino Colli; Donatella Mela; Roberto Colombo; Daniela Tavian
Journal:  Orphanet J Rare Dis       Date:  2010-12-01       Impact factor: 4.123

5.  CGI-58/ABHD5-derived signaling lipids regulate systemic inflammation and insulin action.

Authors:  Caleb C Lord; Jenna L Betters; Pavlina T Ivanova; Stephen B Milne; David S Myers; Jennifer Madenspacher; Gwynneth Thomas; Soonkyu Chung; Mingxia Liu; Matthew A Davis; Richard G Lee; Rosanne M Crooke; Mark J Graham; John S Parks; Dawn L Brasaemle; Michael B Fessler; H Alex Brown; J Mark Brown
Journal:  Diabetes       Date:  2012-01-06       Impact factor: 9.461

6.  Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.

Authors:  Murat Durdu; Sara Missaglia; Laura Moro; Daniela Tavian
Journal:  BMC Med Genet       Date:  2018-05-29       Impact factor: 2.103
  6 in total
  1 in total

1.  A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia.

Authors:  S Charles Bronson; E Suresh; S Stephen Abraham Suresh Kumar; C Mythili; A Shanmugam
Journal:  Cureus       Date:  2021-02-06
  1 in total

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