Literature DB >> 26215884

Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.

Valerie Gartner1, Peter J McGuire1, Paul R Lee2.   

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Year:  2015        PMID： 26215884      PMCID： PMC4520810          DOI： 10.1212/WNL.0000000000001786

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


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Authors:  Ulrich A Schatz; Regina Ensenauer
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2.  The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

Authors:  Terry G J Derks; Dirk-Jan Reijngoud; Hans R Waterham; Willem-Jan M Gerver; Maarten P van den Berg; Pieter J J Sauer; G Peter A Smit
Journal:  J Pediatr       Date:  2006-05       Impact factor: 4.406

3.  Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.

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Journal:  J Inherit Metab Dis       Date:  2012-10-03       Impact factor: 4.982

4.  Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.

Authors:  P Rinaldo; J J O'Shea; P M Coates; D E Hale; C A Stanley; K Tanaka
Journal:  N Engl J Med       Date:  1988-11-17       Impact factor: 91.245

Review 5.  An overview of beta-oxidation disorders.

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Journal:  Postepy Hig Med Dosw (Online)       Date:  2009-06-08       Impact factor: 0.270

6.  Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

Authors:  A K Iafolla; R J Thompson; C R Roe
Journal:  J Pediatr       Date:  1994-03       Impact factor: 4.406

Review 7.  Regulation of mitochondrial fatty acid β-oxidation in human: what can we learn from inborn fatty acid β-oxidation deficiencies?

Authors:  Jean Bastin
Journal:  Biochimie       Date:  2013-06-10       Impact factor: 4.079

8.  In silico evidence for gluconeogenesis from fatty acids in humans.

Authors:  Christoph Kaleta; Luís F de Figueiredo; Sarah Werner; Reinhard Guthke; Michael Ristow; Stefan Schuster
Journal:  PLoS Comput Biol       Date:  2011-07-21       Impact factor: 4.475

9.  The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.

Authors:  Johanna M Jank; Esther M Maier; Dunja D Reiβ; Martin Haslbeck; Kristina F Kemter; Marietta S Truger; Christian P Sommerhoff; Sacha Ferdinandusse; Ronald J Wanders; Søren W Gersting; Ania C Muntau
Journal:  PLoS One       Date:  2014-04-09       Impact factor: 3.240
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Review 1.  Metabolism.

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