Literature DB >> 16276565

Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy.

Andrea L Gropman1.   

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Year:  2005        PMID： 16276565     DOI： 10.1016/j.ymgme.2005.07.009

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  12 in total

Review 1.  Brain imaging in urea cycle disorders.

Authors:  Andrea Gropman
Journal:  Mol Genet Metab       Date:  2010-02-13       Impact factor: 4.797

Review 2.  Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.

Authors:  Ileana Pacheco-Colón; Stanley Fricke; John VanMeter; Andrea L Gropman
Journal:  Mol Genet Metab       Date:  2014-05-20       Impact factor: 4.797

Review 3.  New frontiers in neuroimaging applications to inborn errors of metabolism.

Authors:  Morgan J Prust; Andrea L Gropman; Natalie Hauser
Journal:  Mol Genet Metab       Date:  2011-06-30       Impact factor: 4.797

4.  Citrullinemia, a rare cause of recurring encephalopathy.

Authors:  J N Goswami; A K Simalti; Atul Mishra
Journal:  Med J Armed Forces India       Date:  2020-03-19

Review 5.  Neuroimaging in mitochondrial disorders.

Authors:  Andrea L Gropman
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

Review 6.  Neurological implications of urea cycle disorders.

Authors:  A L Gropman; M Summar; J V Leonard
Journal:  J Inherit Metab Dis       Date:  2007-11-23       Impact factor: 4.982

Review 7.  Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature.

Authors:  Alireza Radmanesh; Talieh Zaman; Hossein Ghanaati; Sanaz Molaei; Richard L Robertson; Amir A Zamani
Journal:  Pediatr Radiol       Date:  2008-07-18

8.  Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism.

Authors:  Andrea L Gropman; Afrouz Anderson
Journal:  J Transl Genet Genom       Date:  2020-11-13

Review 9.  Psychiatric manifestations in cerebrotendinous xanthomatosis.

Authors:  M J Fraidakis
Journal:  Transl Psychiatry       Date:  2013-09-03       Impact factor: 6.222

10.  Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.

Authors:  Frédéric Sedel; Brigitte Chabrol; Bertrand Audoin; Elsa Kaphan; Christine Tranchant; Tomasz Burzykowski; Ayman Tourbah; Marie T Vanier; Damien Galanaud
Journal:  J Neurol       Date:  2016-03-16       Impact factor: 4.849
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