Literature DB >> 23490117

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population.

C Criscuolo, A Guacci, R Carbone, M Lieto, E Salsano, L Nanetti, G D Michele, A Filla.   

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Year:  2013        PMID： 23490117     DOI： 10.1111/ene.12056

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  3 in total

Review 1.  Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

Authors:  Saskia B Wortmann; Marc Espeel; Ligia Almeida; Annette Reimer; Dennis Bosboom; Frank Roels; Arjan P M de Brouwer; Ron A Wevers
Journal:  J Inherit Metab Dis       Date:  2014-09-02       Impact factor: 4.982

Review 2.  The Lysophosphatidylserines-An Emerging Class of Signalling Lysophospholipids.

Authors:  Karthik Shanbhag; Amol Mhetre; Neha Khandelwal; Siddhesh S Kamat
Journal:  J Membr Biol       Date:  2020-08-07       Impact factor: 1.843

3.  Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids.

Authors:  Alaumy Joshi; Minhaj Shaikh; Shubham Singh; Abinaya Rajendran; Amol Mhetre; Siddhesh S Kamat
Journal:  J Biol Chem       Date:  2018-09-20       Impact factor: 5.157
  3 in total

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