Literature DB >> 20921516

Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency.

V Kapina1, F Sedel, A Truffert, J Horvath, R J A Wanders, H R Waterham, F Picard.   

Abstract

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Year:  2010        PMID： 20921516     DOI： 10.1212/WNL.0b013e3181f612a5

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

1.  An overview of inborn errors of complex lipid biosynthesis and remodelling.

Authors:  Foudil Lamari; Fanny Mochel; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2014-09-20       Impact factor: 4.982

Review 2.  The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

Authors:  Àngels Garcia-Cazorla; Fanny Mochel; Foudil Lamari; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2014-11-21       Impact factor: 4.982

Review 3.  Acute rhabdomyolysis and inflammation.

Authors:  Yamina Hamel; Asmaa Mamoune; François-Xavier Mauvais; Florence Habarou; Laetitia Lallement; Norma Beatriz Romero; Chris Ottolenghi; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2015-03-17       Impact factor: 4.982

4.  Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance.

Authors:  Mark Z Kos; Melanie A Carless; Juan Peralta; Joanne E Curran; Ellen E Quillen; Marcio Almeida; August Blackburn; Lucy Blondell; David R Roalf; Michael F Pogue-Geile; Ruben C Gur; Harald H H Göring; Vishwajit L Nimgaonkar; Raquel E Gur; Laura Almasy
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2017-09-13       Impact factor: 3.568

5.  MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

Authors:  Kristoffer Haugarvoll; Stefan Johansson; Charalampos Tzoulis; Bjørn Ivar Haukanes; Cecilie Bredrup; Gesche Neckelmann; Helge Boman; Per Morten Knappskog; Laurence A Bindoff
Journal:  Orphanet J Rare Dis       Date:  2013-01-03       Impact factor: 4.123

6.  Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.

Authors:  Abrar K Alsalamah; Arif O Khan
Journal:  Mol Vis       Date:  2021-07-01       Impact factor: 2.367
  6 in total

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