Literature DB >> 25234588

Screening for cerebrotendinous xanthomatosis.

James J Pitt1, Heidi Peters.   

Abstract

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Year:  2014        PMID： 25234588     DOI： 10.1007/s10545-014-9765-9

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.

Authors:  Andrea Mignarri; Gian Nicola Gallus; Maria Teresa Dotti; Antonio Federico
Journal:  J Inherit Metab Dis       Date:  2014-01-18       Impact factor: 4.982

2.  High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry.

Authors:  James J Pitt
Journal:  Clin Chim Acta       Date:  2007-01-24       Impact factor: 3.786
  2 in total

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