Literature DB >> 15150357

A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene.

Giovanni M Frascà1, Letizia Soverini, Elena Tampieri, Guido Franceschini, Laura Calabresi, Livia Pisciotta, Paola Preda, Alba Vangelista, Sergio Stefoni, Stefano Bertolini.   

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Year:  2004        PMID： 15150357     DOI： 10.1093/ndt/gfh179

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


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  3 in total

1.  Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family.

Authors:  H S Mahapatra; S Ramanarayanan; A Gupta; M Bhardwaj
Journal:  Indian J Nephrol       Date:  2015 Nov-Dec

Review 2.  A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Authors:  Cecilia Vitali; Archna Bajaj; Christina Nguyen; Jill Schnall; Jinbo Chen; Kostas Stylianou; Daniel J Rader; Marina Cuchel
Journal:  J Lipid Res       Date:  2022-01-20       Impact factor: 5.922

3.  LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Authors:  Roopa Mehta; Daniel Elías-López; Alexandro J Martagón; Oscar A Pérez-Méndez; Maria Luisa Ordóñez Sánchez; Yayoi Segura; Maria Teresa Tusié; Carlos A Aguilar-Salinas
Journal:  Lipids Health Dis       Date:  2021-07-13       Impact factor: 3.876
  3 in total

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