David Meili

David Meili

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David Meili

David Meili

Publications by authors named "David Meili"

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Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.

JIMD Rep 2016 26;29:33-38. Epub 2015 Nov 26.

Bioanalytics & Biochemistry, Department of Natural Sciences, Bonn-Rhein-Sieg University of Applied Sciences, von-Liebig-Str. 20, 53359, Rheinbach, Germany.

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_519
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http://link.springer.com/10.1007/8904_2015_519
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059203PMC
http://dx.doi.org/10.1007/8904_2015_519DOI Listing
November 2015

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.

Hum Mutat 2011 Sep 4;32(9):1019-27. Epub 2011 Aug 4.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.21529DOI Listing
September 2011

Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants.

Mol Genet Metab 2011 Mar 29;102(3):368-73. Epub 2010 Nov 29.

Division of Chemistry and Biochemistry, Department of Pediatrics, University of Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2010.11.162DOI Listing
March 2011

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

Hum Mutat 2009 May;30(5):823-31

Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zürich, Switzerland.

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http://dx.doi.org/10.1002/humu.20969DOI Listing
May 2009