Literature DB >> 30367223

[Metabolic induced changes of the central nervous system].

W Reith1, U Yilmaz2, R Mühl-Bennighaus2, A Haußmann2.   

Abstract

CLINICAL ISSUE: The diagnosis of metabolic disorders of the central nervous system (CNS) can be very challenging for radiologists because of the nonspecific white matter lesions of the brain, the rarity of these diseases, and the variety of possible differential diagnoses. RADIOLOGICAL STANDARD
METHODS: Standard for the evaluation of the metabolic disorders is cranial MRI. The MRI spectroscopy can additionally help to reduce the possible differential diagnoses.

Entities:  

Keywords:  Differential diagnosis; Leukodystrophy; Magnetic resonance spectroscopy; Metabolic disorders; White matter

Mesh:

Year:  2018        PMID: 30367223     DOI: 10.1007/s00117-018-0468-3

Source DB:  PubMed          Journal:  Radiologe        ISSN: 0033-832X            Impact factor:   0.635


  14 in total

1.  Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.

Authors:  Renata C Gallagher; Tina M Cowan; Stephen I Goodman; Gregory M Enns
Journal:  Mol Genet Metab       Date:  2005-09-23       Impact factor: 4.797

Review 2.  The diagnosis and treatment of minimal hepatic encephalopathy.

Authors:  Tianzuo Zhan; Wolfgang Stremmel
Journal:  Dtsch Arztebl Int       Date:  2012-03-09       Impact factor: 5.594

Review 3.  Metabolic white matter diseases and the utility of MR spectroscopy.

Authors:  Macey D Bray; Mark E Mullins
Journal:  Radiol Clin North Am       Date:  2014-03       Impact factor: 2.303

4.  Classical triad of Kearns-Sayre syndrome.

Authors:  Akhil Kumar Sharma; Nirdesh Jain; Rajiv Bharat Kharwar; Varun Shankar Narain
Journal:  BMJ Case Rep       Date:  2016-07-07

5.  (1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.

Authors:  Inga Harting; Nikolas Boy; Jana Heringer; Angelika Seitz; Martin Bendszus; Petra J W Pouwels; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2015-04-10       Impact factor: 4.982

6.  Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Authors:  Xavier Ayrignac; Clarisse Carra-Dalliere; Nicolas Menjot de Champfleur; Christian Denier; Patrick Aubourg; Celine Bellesme; Giovanni Castelnovo; Jean Pelletier; Bertrand Audoin; Elsa Kaphan; Jerome de Seze; Nicolas Collongues; Frederic Blanc; Jean-Baptiste Chanson; Eloi Magnin; Eric Berger; Sandra Vukusic; Francoise Durand-Dubief; Jean-Philippe Camdessanche; Mickael Cohen; Christine Lebrun-Frenay; David Brassat; Michel Clanet; Patrick Vermersch; Helene Zephir; Olivier Outteryck; Sandrine Wiertlewski; David-Axel Laplaud; Jean-Christophe Ouallet; Bruno Brochet; Cyril Goizet; Marc Debouverie; Sophie Pittion; Gilles Edan; Véronique Deburghgraeve; Emmanuelle Le Page; Christophe Verny; Patrizia Amati-Bonneau; Dominique Bonneau; Didier Hannequin; Lucie Guyant-Maréchal; Nathalie Derache; Gilles Louis Defer; Thibault Moreau; Maurice Giroud; Anne Marie Guennoc; Pierre Clavelou; Frédérique Taithe; Stephane Mathis; Jean-Philippe Neau; Laurent Magy; Jean Louis Devoize; Marc Bataillard; Julien Masliah-Planchon; Imen Dorboz; Elisabeth Tournier-Lasserve; Thierry Levade; Odile Boespflug Tanguy; Pierre Labauge
Journal:  Brain       Date:  2014-12-19       Impact factor: 13.501

7.  Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.

Authors:  G F Hoffmann; S Athanassopoulos; A B Burlina; M Duran; J B de Klerk; W Lehnert; J V Leonard; A A Monavari; E Müller; A C Muntau; E R Naughten; B Plecko-Starting; A Superti-Furga; J Zschocke; E Christensen
Journal:  Neuropediatrics       Date:  1996-06       Impact factor: 1.947

8.  Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Authors:  Inga Harting; Eva Neumaier-Probst; Angelika Seitz; Esther M Maier; Birgit Assmann; Ivo Baric; Monica Troncoso; Chris Mühlhausen; Johannes Zschocke; Nikolas P S Boy; Georg F Hoffmann; Sven F Garbade; Stefan Kölker
Journal:  Brain       Date:  2009-05-11       Impact factor: 13.501

9.  Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.

Authors:  U Heinisch; J Zlotogora; S Kafert; V Gieselmann
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

Review 10.  Magnetic resonance imaging of arterial stroke mimics: a pictorial review.

Authors:  Gilles Adam; Marine Ferrier; Sofia Patsoura; Raluca Gramada; Zuzana Meluchova; Vanessa Cazzola; Jean Darcourt; Christophe Cognard; Alain Viguier; Fabrice Bonneville
Journal:  Insights Imaging       Date:  2018-06-22
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